108 results on '"Simon Freeman'
Search Results
2. Acute otitis externa: Consensus definition, diagnostic criteria and core outcome set development.
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Matthew E Smith, John C Hardman, Nishchay Mehta, Gareth H Jones, Rishi Mandavia, Caroline Anderson, Maha Khan, Aula Abdelaziz, Bakir Al-Dulaimy, Nikul Amin, Rajesh Anmolsingh, Bilal Anwar, Manohar Bance, Katherine Belfield, Mahmood Bhutta, Ruaridh Buchanan, Deepak Chandrasekharan, Michael Chu, Srikanth Chundu, Katherine Conroy, Gemma Crundwell, Mat Daniel, Jessica Daniels, Sujata De, Sian Dobbs, Jayesh Doshi, Matthew Farr, Tanjinah Ferdous, Eleni Fragkouli, Simon Freeman, Samit Ghosh, Emma Gosnell, S Alam Hannan, Elliot Heward, Faisal Javed, Deepa John, Helen Nicholls, Anand V Kasbekar, Haroon Khan, Hammad Khan, Sadie Khwaja, Bhik Kotecha, Madhankumar Krishnan, Nirmal Kumar, Tamara Lamb, Hannah Lancer, Joseph G Manjaly, Marcos Martinez Del Pero, Fiona McClenaghan, Kristijonas Milinis, Nina Mistry, Hassan Mohammed, Elizabeth Morris, Stephen Morris-Jones, Jessica Padee, Surojit Pal, Sanjay Patel, Agamemnon Pericleous, Asad Qayyum, Maral Rouhani, Haroon Saeed, Mirusanthan Santhiyapillai, Kay Seymour, Sunil Sharma, Richard Siau, Arvind Singh, Emma Stapleton, Kate Stephenson, Gill Stynes, Bharathi Subramanian, Neil Summerfield, Chloe Swords, Aaron Trinidade, Antonia Tse, Emmanuel Twumasi, Harmony Ubhi, Samit Unadkat, Ananth Vijendren, Joe Wasson, Glen Watson, Glennis Williams, Janet Wilson, Alexander Yao, Ahmed Youssef, Simon K W Lloyd, James R Tysome, and INTEGRATE (The UK ENT Trainee Research Network)
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Medicine ,Science - Abstract
ObjectiveEvidence for the management of acute otitis externa (AOE) is limited, with unclear diagnostic criteria and variably reported outcome measures that may not reflect key stakeholder priorities. We aimed to develop 1) a definition, 2) diagnostic criteria and 3) a core outcome set (COS) for AOE.Study designCOS development according to Core Outcome Measures in Effectiveness Trials (COMET) methodology and parallel consensus selection of diagnostic criteria/definition.SettingStakeholders from the United Kingdom.Subjects and methodsComprehensive literature review identified candidate items for the COS, definition and diagnostic criteria. Nine individuals with past AOE generated further patient-centred candidate items. Candidate items were rated for importance by patient and professional (ENT doctors, general practitioners, microbiologists, nurses, audiologists) stakeholders in a three-round online Delphi exercise. Consensus items were grouped to form the COS, diagnostic criteria, and definition.ResultsCandidate COS items from patients (n = 28) and literature (n = 25) were deduplicated and amalgamated to a final candidate list (n = 46). Patients emphasised quality-of-life and the impact on daily activities/work. Via the Delphi process, stakeholders agreed on 31 candidate items. The final COS covered six outcomes: pain; disease severity; impact on quality-of-life and daily activities; patient satisfaction; treatment-related outcome; and microbiology. 14 candidate diagnostic criteria were identified, 8 reaching inclusion consensus. The final definition for AOE was 'diffuse inflammation of the ear canal skin of less than 6 weeks duration'.ConclusionThe development and adoption of a consensus definition, diagnostic criteria and a COS will help to standardise future research in AOE, facilitating meta-analysis. Consulting former patients throughout development highlighted deficiencies in the outcomes adopted previously, in particular concerning the impact of AOE on daily life.
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- 2021
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3. Impact on patients of the coronovirus disease 2019 pandemic and postponement of cochlear implant surgery: a qualitative study
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Emma M. Stapleton, Iain A. Bruce, U Martinez de Estibariz, Martin O'Driscoll, R Abrar, and Simon R. Freeman
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Adult ,Male ,Physical Distancing ,Anxiety ,Deafness ,Frustration ,Grounded theory ,Time-to-Treatment ,Young Adult ,Quality of life (healthcare) ,Surveys and Questionnaires ,medicine ,Humans ,Young adult ,Qualitative Research ,Aged ,Depression ,SARS-CoV-2 ,business.industry ,Communication ,Loneliness ,COVID-19 ,General Medicine ,Middle Aged ,Cochlear Implantation ,Cochlear Implants ,Cross-Sectional Studies ,Mood ,Otorhinolaryngology ,Elective Surgical Procedures ,Quality of Life ,Female ,medicine.symptom ,business ,Psychosocial ,Clinical psychology ,Qualitative research - Abstract
ObjectiveThis study aimed to explore the impact of the coronavirus disease 2019 pandemic and postponement of elective surgical procedures for profoundly deaf patients awaiting cochlear implantation.MethodOpen-ended questionnaires were sent to all adult patients awaiting cochlear implantation surgery. Qualitative analysis was performed using a grounded theory approach.ResultsParticipants described a primarily negative impact on wellbeing from the surgery delay, expressing feelings of isolation or loneliness. Low mood, depression or hopelessness were commonly expressed by elderly participants; frustration and anxiety were described by young adults. Participants described a negative impact on their general daily life, describing difficulties communicating with facemasks and struggles with reliance on telephone communication because of social distancing. Despite these significant psychosocial challenges, only a minority described adaptive coping strategies.DiscussionProfoundly deaf patients may be at greater psychosocial risk because of unique challenges from their hearing disability. Our findings can be used to develop evidence-driven strategies to improve communication, wellbeing and quality of life.
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- 2021
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4. WFUMB Position Paper—Incidental Findings, How to Manage: Spleen
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Simon Freeman, Christoph F. Dietrich, Corinna Trenker, Christian Jenssen, Elena Simona Ioanițescu, Christian Görg, Yi Dong, and Cosmin Caraiani
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Incidental Findings ,medicine.medical_specialty ,Acoustics and Ultrasonics ,Radiological and Ultrasound Technology ,Biophysics ,Spleen ,030218 nuclear medicine & medical imaging ,Patient management ,Clinical Practice ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Histological diagnosis ,medicine ,Humans ,Position paper ,030211 gastroenterology & hepatology ,Radiology, Nuclear Medicine and imaging ,Radiology ,Medical ultrasound ,Splenic Diseases ,Ultrasonography - Abstract
The World Federation for Ultrasound in Medicine and Biology (WFUMB) is addressing the issue of incidental findings (IFs) with a series of publications entitled "Incidental Imaging Findings-The Role of Medical Ultrasound." IFs are less commonly encountered in the spleen than in many other abdominal organs but remain a frequent dilemma in clinical practice. A histological diagnosis is rarely necessary for patient management. Many IFs, such as secondary spleens and splenic cysts, are harmless and do not require any further investigation. The diagnosis of many other focal splenic lesions is, however, often problematic. The following overview is intended to illustrate a variety of incidentally detected spleen pathologies such as size variants, shape variants, secondary spleens, focal splenic lesions and splenic calcifications. It should aid the examiner in establishing the diagnosis. Moreover, it should help the ultrasound practitioner decide which pathologies need no further investigation, those requiring interval imaging and cases in which immediate further diagnostic procedures are required.
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- 2021
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5. Long-Term Outcomes of the Electrically Unresponsive, Anatomically Intact Facial Nerve Following Vestibular Schwannoma Surgery
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Andrew T. King, Charlotte Hammerbeck-Ward, Constantine E. Kanakis, Alejandro Feria, Emma Stapleton, Simon R. Freeman, Alireza Shoakazemi, Scott A. Rutherford, Simon K W Lloyd, and Omar N. Pathmanaban
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Vestibular system ,Subset Analysis ,medicine.medical_specialty ,Palsy ,business.industry ,Schwannoma ,medicine.disease ,Facial nerve ,Surgery ,03 medical and health sciences ,0302 clinical medicine ,Vascularity ,Long term outcomes ,Medicine ,In patient ,Neurology (clinical) ,medicine.symptom ,030223 otorhinolaryngology ,business ,030217 neurology & neurosurgery - Abstract
Objective The study aimed to determine long-term outcomes in patients with intraoperative electrical conduction block in an anatomically intact facial nerve (FN). Methods Single center retrospective review of prospectively collected database of all vestibular schwannoma surgeries between January 1, 2008 and August 25, 2015. Operative notes were reviewed and patients with anatomically intact FNs, but complete conduction block at the end of surgery were included for analysis. Results In total, 371 patients had vestibular schwannoma surgery of which 18 met inclusion criteria. Mean follow-up was 34.28 months and average tumor size was 28.00 mm. Seventeen patients had House-Brackmann Grade VI facial palsy immediately postoperatively and one patient was grade V. At 1 year, three patients remained grade VI (17%), two improved to grade V (11%), seven to grade IV (39%), six to grade III (33%), and one patient to grade II (6%). On extended follow-up, five patients (28%) had additional 1 to 2 score improvement in facial function. Subset analysis revealed no correlation of tumor size, vascularity, adherence to nerve, operative approach, extent of resection, splaying of FN, and recurrent tumor or sporadic tumors to the extent of FN recovery. Conclusion Intraoperative conduction block does not condemn a patient to permanent FN palsy. There is potential for a degree of recovery comparable with those undergoing nerve grafting. Our data do not clearly support a policy of same-surgery or early-postoperative primary nerve grafting in the event of a complete conduction block, and instead we favor monitoring for recovery in an anatomically intact nerve.
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- 2021
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6. Beyond Antoni: A Surgeon's Guide to the Vestibular Schwannoma Microenvironment
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Claire O'Leary, Carmine Antonio Donofrio, Cathal John Hannan, Simon K L Lloyd, Daniel Lewis, David Brough, Emma Stapleton, David Coope, Stuart M. Allan, Charlotte Hammerbeck-Ward, Andrew T. King, Simon R. Freeman, D. G. R. Evans, Scott A. Rutherford, and Omar N. Pathmanaban
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Bevacizumab ,Angiogenesis ,medicine.medical_treatment ,Schwann cell ,Inflammation ,bevacizumab ,Schwannoma ,immunomodulation ,angiogenesis ,03 medical and health sciences ,antiangiogenic ,biomarkers ,immunotherapy ,inflammation ,tumor immunology ,tumor-associated macrophages ,vestibular schwannoma ,0302 clinical medicine ,Immune system ,Medicine ,030304 developmental biology ,0303 health sciences ,Tumor microenvironment ,business.industry ,Immunotherapy ,medicine.disease ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Cancer research ,Neurology (clinical) ,medicine.symptom ,business ,medicine.drug - Abstract
Introduction Vestibular schwannomas (VS) are histologically benign tumors arising from cranial nerve VIII. Far from a homogenous proliferation of Schwann cells, mounting evidence has highlighted the complex nature of the inflammatory microenvironment in these tumors. Methods A review of the literature pertaining to inflammation, inflammatory molecular pathways, and immune-related therapeutic targets in VS was performed. Relevant studies published up to June 2020 were identified based on a literature search in the PubMed and MEDLINE databases and the findings were synthesized into a concise narrative review of the topic. Results The VS microenvironment is characterized by a dense infiltrate of inflammatory cells, particularly macrophages. Significantly higher levels of immune cell infiltration are observed in growing versus static tumors, and there is a demonstrable interplay between inflammation and angiogenesis in growing VS. While further mechanistic studies are required to ascertain the exact role of inflammation in angiogenesis, tumor growth, and Schwann cell control, we are beginning to understand the key molecular pathways driving this inflammatory microenvironment, and how these processes can be monitored and targeted in vivo. Conclusion Observational research has revealed a complex and heterogeneous tumor microenvironment in VS. The functional landscape and roles of macrophages and other immune cells in the VS inflammatory infiltrate are, however, yet to be established. The antiangiogenic drug bevacizumab has shown the efficacy of targeted molecular therapies in VS and there is hope that agents targeting another major component of the VS microenvironment, inflammation, will also find a place in their future management.
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- 2020
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7. Ultrasound evaluation of varicoceles: systematic literature review and rationale of the ESUR-SPIWG Guidelines and Recommendations
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Karolina Markiet, Simon Freeman, Laurence Rocher, Vikram S. Dogra, Michele Bertolotto, Pietro Pavlica, Paul S. Sidhu, Ahmet Tuncay Turgut, Francesco Lotti, Dean Y. Huang, Athina C. Tsili, Parvati Ramchandani, Jonathan Richenberg, Mustafa Secil, Lorenzo E. Derchi, Michał Studniarek, Subramaniyan Ramanathan, Katarzyna Skrobisz, Jane Belfield, and Olivera Nikolic
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Male ,medicine.medical_specialty ,Doppler studies ,030232 urology & nephrology ,03 medical and health sciences ,0302 clinical medicine ,Varicocele ,Internal Medicine ,Humans ,Examination technique ,Medicine ,Radiology, Nuclear Medicine and imaging ,In patient ,Medical physics ,Spermatogenesis ,Infertility, Male ,Ultrasonography ,Medical attention ,Review Paper ,US ,030219 obstetrics & reproductive medicine ,business.industry ,Ultrasound ,General Medicine ,Systematic review ,Infertility ,Practice Guidelines as Topic ,Scrotum ,business ,Penis - Abstract
Although often asymptomatic and detected incidentally, varicocele is a relatively common problem in patients who seek medical attention for infertility problems. Ultrasound (US) is the imaging modality of choice for evaluation, but there is no consensus on the diagnostic criteria, classification, and examination technique. In view of this uncertainty, the Scrotal and Penile Imaging Working Group of the European Society of Urogenital Radiology (ESUR-SPIWG) undertook a systematic review of the available literature on this topic, to use as the basis for evidence-based guidelines and recommendations. This paper provides the results of the systematic review on which guidelines were constructed.
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- 2020
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8. The magnetic resonance imaging appearances of the interureteric crest of the urinary bladder
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Petra L. Williams, Simon Freeman, and Peter Abernethy
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Male ,medicine.medical_specialty ,Urinary Bladder ,Pathology and Forensic Medicine ,Sex Factors ,Bladder tumor ,Humans ,Medicine ,Radiology, Nuclear Medicine and imaging ,Diagnostic Errors ,Pelvis ,Aged ,Retrospective Studies ,Aged, 80 and over ,Pelvic MRI ,Urinary bladder ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,Middle Aged ,Magnetic Resonance Imaging ,Sagittal plane ,medicine.anatomical_structure ,Urinary Bladder Neoplasms ,Orthopedic surgery ,Female ,Surgery ,Crest ,Radiology ,Ureter ,Anatomy ,business - Abstract
This study was devised to evaluate the imaging appearances of the interureteric crest (IUC) of the bladder on magnetic resonance imaging (MRI). The primary objective was to determine how commonly the IUC was observed on pelvic MRI examinations. The secondary objectives were to determine the average size of the IUC, its MRI signal characteristics and whether there is variation between men and women. By defining the imaging findings we hope to prevent misinterpretation of normal anatomy on MRI and, therefore, prevent unnecessary further investigations and procedures. We retrospectively reviewed 114 adult patient’s magnetic resonance imaging examinations of the pelvis. Two readers independently recorded information about the presence and characteristics of the IUC with a third reader used to arbitrate in cases of disagreement. The IUC was demonstrated on MRI in 75% of patients. It was best observed on T2w sequences as a continual ridge of low signal intensity between the ureters. The mean AP diameter of the IUC at its mid-point on the sagittal images was 2.4 mm. The IUC is often seen on MRI on T2w images of a non-collapsed bladder. Its characteristic appearance can be used to help the reporting radiologist confidently differentiate identify this normal structure from an area of focal bladder wall thickening that might be misinterpreted as a bladder tumor.
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- 2020
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9. The utility of the exoscope compared to the operating microscope in simulated temporal bone surgery
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Jaya Nichani, Emma Jane Stapleton, Kevin Green, Pournima Wagh, Simon K. W. Lloyd, and Simon R. Freeman
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medicine.medical_specialty ,Microsurgery ,Microscope ,Image quality ,Temporal bone surgery ,law.invention ,Cohort Studies ,Imaging, Three-Dimensional ,law ,Medicine ,Humans ,Medical physics ,COVID ,Microscopy ,exoscope ,business.industry ,Outcome measures ,Temporal Bone ,ear surgery ,Otorhinolaryngology ,personal protective equipment ,temporal bone ,business ,Operating microscope ,Otologic Surgical Procedures - Abstract
Objective: To objectively assess the utility of an exoscope during simulated otological surgery. Design: Cohort study. Setting: Tertiary referral otolaryngology centre. Participants: Seven experienced otologists undertook simulated temporal bone surgery on plastic temporal bones using the Zeiss Kinevo microscope with both a microscope and exoscope facility. Outcome measures: The utility of microscope and exoscope was compared using a Likert scale from 1 to 10 with and without PPE. Attributes assessed included image quality, depth perception, adequacy of view, exoscope positioning, surgeon comfort, surgeon safety and adequacy of image and protection for assistants and observers. Results: The exoscope in 3D mode performed as well as or better than the microscope for image quality, field of view and manoeuvrability. It outperformed the microscope for compatibility with PPE, surgeon comfort and assistant/observer experience. It scored almost as highly as the microscope for depth perception. Conclusion: There is likely to be a learning curve but this initial assessment of the exoscope shows significant potential as an alternative to the operating microscope in otological surgery but with the advantage of allowing the use of appropriate PPE and better ergonomics for both surgeon and assistant/observer.
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- 2021
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10. Incidental Findings and How to Manage Them: Testis- A WFUMB Position Paper
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M. Jêdrzejczyk, Andrzej Lewicki, Yi Dong, Christoph F. Dietrich, Simon Freeman, Jakub Dobruch, Michele Bertolotto, Lewicki, Andrzej, Freeman, Simon, Jędrzejczyk, Maciej, Dobruch, Jakub, Dong, Yi, Bertolotto, Michele, and Dietrich, Christoph F
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Position statement ,Male ,medicine.medical_specialty ,Acoustics and Ultrasonics ,Biophysics ,Neuroimaging ,Malignancy ,Asymptomatic ,Follow-up ,Incidental findings ,Testis ,Ultrasound ,Humans ,Ultrasonography ,Incidental Findings ,Incidental Finding ,medicine ,Radiology, Nuclear Medicine and imaging ,Radiological and Ultrasound Technology ,business.industry ,Incidentaloma ,medicine.disease ,Ultrasound techniques ,Testi ,Position paper ,Radiology ,medicine.symptom ,business ,Human - Abstract
Testicular incidentalomas are non-palpable, asymptomatic lesions, most frequently detected on ultrasound examinations. Each incidentaloma should undergo a standardized diagnostic workup to exclude malignancy and recognize other potentially significant non-malignant conditions that may first present with an incidental finding on scrotal ultrasound. This position statement of the World Federation of Ultrasound in Medicine and Biology (WFUMB) summarizes the available evidence on management of testicular incidentalomas and describes efficient management strategies with particular reference to the role of ultrasound techniques. (C) 2021 World Federation for Ultrasound in Medicine & Biology. All rights reserved.
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- 2020
11. Image and report quality in non-obstetric ultrasound examinations undertaken by sonographers: Results of an audit of 3731 cases
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Qiqi Lam, Peter Cantin, Catherine Gutteridge, Paul A. Dubbins, Sarah Hamilton, Petra L. Williams, and Simon Freeman
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medicine.medical_specialty ,Radiological and Ultrasound Technology ,business.industry ,media_common.quotation_subject ,Ultrasound ,Audit ,Obstetric ultrasound ,Sonographer ,Medicine ,Radiology, Nuclear Medicine and imaging ,Medical physics ,Quality (business) ,University teaching ,Ultrasonography ,business ,media_common ,Original Research - Abstract
Introduction This paper reports the results of a rolling audit of sonographer-performed non-obstetric ultrasound examinations undertaken between 2010 and 2020 in a large University Teaching Hospital Ultrasound Department in the United Kingdom. We believe that this represents the largest published audit of sonographer non-obstetric ultrasound examination quality. Methods Random samples of sonographer ultrasound examinations were regularly and systematically audited by consultant-level ultrasound practitioners through review of soft copy images and reports. Examination and report quality were assessed against an internal audit standard in 3731 patients over an 11-year period and also against externally set audit standards in 3186 patients over a nine-year period. Results Both image and report quality exceeded externally set audit standards in all nine years of audit. In the internal audit, the quality standard just failed to be met for the first five years of audit but was achieved in all the subsequent six years. Conclusion This audit provides further information on the quality and safety of sonographer-led ultrasound service delivery within a service that has quality safeguards, readily available support and an active education programme. It is used not only to provide assurance to patients, clinicians, managers and commissioners of this service but also to direct individual professional development and drive an iterative process of quality improvement.
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- 2021
12. Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
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Omar N. Pathmanaban, Miriam J. Smith, Simon R. Freeman, Raji Anup, Mary Perry, D. Gareth Evans, Elaine F. Harkness, Emma Stapleton, Roger Laitt, Simon Tobi, Allyson Parry, Rupert Obholzer, Andrew T. King, Naomi L. Bowers, Philip T Smith, Shazia K. Afridi, Mark Kellett, Owen M. Thomas, Chris Duff, Grace Vassallo, Juliette Gair, Andrew J Wallace, Simon K W Lloyd, Scott A. Rutherford, Claire Hartley, Charlotte Hammerbeck-Ward, Stavros Stivaros, Patrick R. Axon, and Dorothy Halliday
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0301 basic medicine ,Genetics ,Offspring ,Incidence (epidemiology) ,Heterozygote advantage ,Disease ,030105 genetics & heredity ,Biology ,medicine.disease ,DNA sequencing ,Neurofibromatosis type 2 ,03 medical and health sciences ,mosaicism ,030104 developmental biology ,NF2 ,otorhinolaryngologic diseases ,medicine ,LZTR1 ,Neurofibromatosis ,schwannoma ,Allele frequency ,Genetics (clinical) - Abstract
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.RESULTS: The rate of proven/presumed mosaicism was 232/1055 (22.0%). However, nonmosaic heterozygous pathogenic variants were only identified in 387/1055 (36.7%). When variant detection rates in second generation nonmosaics were applied to de novo cases, we assessed the overall probable mosaicism rate to be 59.7%. This rate differed by age from 21.7% in those presenting with bilateral vestibular schwannoma CONCLUSION: This study has identified a very high probable mosaicism rate in de novo NF2, probably making NF2 the condition with the highest expressed rate of mosaicism in de novo dominant disease that is nonlethal in heterozygote form. Risks to offspring are small and probably correlate with variant allele frequency detected in blood.
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- 2020
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13. Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing
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Omar N. Pathmanaban, Mary Perry, Patrick R. Axon, Dorothy Halliday, Miriam J. Smith, Owen M. Thomas, Roger Laitt, Allyson Parry, Juliette Gair, Mark Kellett, Elaine F. Harkness, Emma Stapleton, Rosalie E. Ferner, Simon R. Freeman, Andrew J Wallace, Simon K.L. Lloyd, Scott A. Rutherford, Naomi L. Bowers, Andrew T. King, Shazia K. Afridi, Raji Anup, Simon Tobi, D. Gareth Evans, and Charlotte Hammerbeck-Ward
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Adult ,Male ,0301 basic medicine ,Ependymoma ,Neurofibromatosis 2 ,Schwannoma ,Adolescent ,Databases, Factual ,computer.software_genre ,Diagnosis, Differential ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Terminology as Topic ,otorhinolaryngologic diseases ,Humans ,Medicine ,Neurofibroma ,Neurofibromatosis type 2 ,Neurofibromatosis ,Sibling ,Child ,Schwannomatosis ,Genetics (clinical) ,Database ,business.industry ,Bilateral vestibular Schwannoma ,medicine.disease ,030104 developmental biology ,Molecular Diagnostic Techniques ,NF2 ,diagnostic criteria ,Female ,LZTR1 ,business ,computer ,030217 neurology & neurosurgery - Abstract
Purpose: We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Methods: Two large databases of individuals fulfilling NF2 criteria (n=1361) and those tested for NF2 variants with criteria short of diagnosis (n=1416) were interrogated. We assessed the proportions meeting each diagnostic criterion with constitutional or mosaic NF2 variants and the Positive Predictive Value (PPV) with regard to definite diagnosis.Results: There was no evidence for usefulness of old criteria ‘glioma’ or ‘neurofibroma’. ‘Ependymoma’ had 100% PPV and high levels of confirmed NF2 diagnosis (67.7%). Those with bilateral vestibular schwannoma (VS) alone aged ≥60 years had the lowest confirmation rate (6.6%) and reduced PPV(80%). Siblings as a first-degree-relative, without an affected parent, had 0% PPV. All three individuals with unilateral VS and an affected sibling were proven not to have NF2. The biggest overlap was with LZTR1-associated schwannomatosis. In this category, seven individuals with unilateral VS plus ≥2 non-dermal schwannomas reduced PPV to 67%.Conclusion: The present study has confirmed important deficiencies in NF2 diagnostic criteria. The term ‘glioma’ should be dropped and replaced by ‘ependymoma’. Similarly ‘neurofibroma’ should be removed. Dropping ‘sibling’ from first-degree-relatives should be considered and testing of LZTR1 should be recommended for unilateral VS.
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- 2019
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14. Acute otitis externa: Consensus definition, diagnostic criteria and core outcome set development
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Smith, Matthew E., Hardman, John C., Mehta, Nishchay, Jones, Gareth H., Mandavia, Rishi, Anderson, Caroline, Khan, Maha, Abdelaziz, Aula, Al-Dulaimy, Bakir, Amin, Nikul, Anmolsingh, Rajesh, Anwar, Bilal, Bance, Manohar, Belfield, Katherine, Bhutta, Mahmood, Buchanan, Ruaridh, Chandrasekharan, Deepak, Chu, Michael, Chundu, Srikanth, Conroy, Katherine, Crundwell, Gemma, Daniel, Mat, Daniels, Jessica, De, Sujata, Dobbs, Sian, Doshi, Jayesh, Farr, Matthew, Ferdous, Tanjinah, Fragkouli, Eleni, Freeman, Simon, Ghosh, Samit, Gosnell, Emma, Hannan, S. Alam, Heward, Elliot, Javed, Faisal, John, Deepa, Nicholls, Helen, Kasbekar, Anand V., Khan, Haroon, Khan, Hammad, Khwaja, Sadie, Kotecha, Bhik, Krishnan, Madhankumar, Kumar, Nirmal, Lamb, Tamara, Lancer, Hannah, Manjaly, Joseph G., Martinez Del Pero, Marcos, McClenaghan, Fiona, Milinis, Kristijonas, Mistry, Nina, Mohammed, Hassan, Morris, Elizabeth, Morris-Jones, Stephen, Padee, Jessica, Pal, Surojit, Patel, Sanjay, Pericleous, Agamemnon, Qayyum, Asad, Rouhani, Maral, Saeed, Haroon, Santhiyapillai, Mirusanthan, Seymour, Kay, Sharma, Sunil, Siau, Richard, Singh, Arvind, Stapleton, Emma, Stephenson, Kate, Stynes, Gill, Subramanian, Bharathi, Summerfield, Neil, Swords, Chloe, Trinidade, Aaron, Tse, Antonia, Twumasi, Emmanuel, Ubhi, Harmony, Unadkat, Samit, Vijendren, Ananth, Wasson, Joe, Watson, Glen, Williams, Glennis, Wilson, Janet, Yao, Alexander, Youssef, Ahmed, Lloyd, Simon K. W., Tysome, James R., On Behalf Of INTEGRATE (The UK ENT Trainee Research Network), Smith, Matthew E [0000-0001-8147-1549], Hardman, John C [0000-0002-6591-5119], Al-Dulaimy, Bakir [0000-0001-6748-8125], Belfield, Katherine [0000-0001-5893-0882], Chu, Michael [0000-0001-9853-4235], Chundu, Srikanth [0000-0002-6717-7690], Doshi, Jayesh [0000-0001-8807-1871], Farr, Matthew [0000-0001-7425-6277], Fragkouli, Eleni [0000-0001-9482-8121], Heward, Elliot [0000-0002-9692-646X], Khan, Hammad [0000-0001-6428-0396], Milinis, Kristijonas [0000-0002-1311-0335], Mohammed, Hassan [0000-0003-0918-6430], Morris-Jones, Stephen [0000-0001-6877-2531], Siau, Richard [0000-0002-6950-4026], Stapleton, Emma [0000-0002-7763-9705], Trinidade, Aaron [0000-0001-8365-8024], Unadkat, Samit [0000-0003-4929-7178], Wilson, Janet [0000-0002-6416-5870], Apollo - University of Cambridge Repository, Smith, Matthew E. [0000-0001-8147-1549], and Hardman, John C. [0000-0002-6591-5119]
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Bacterial Diseases ,FOS: Computer and information sciences ,Activities of daily living ,Delphi Technique ,Ear, External/pathology ,Health Care Providers ,Delphi method ,Nurses ,Otology ,Ear Infections ,Outcome (game theory) ,0302 clinical medicine ,Medical Conditions ,Activities of Daily Living ,Outcome Assessment, Health Care ,030212 general & internal medicine ,Medical Personnel ,Ear, External ,030223 otorhinolaryngology ,Pain/diagnosis ,computer.programming_language ,Data Management ,Multidisciplinary ,Computer and information sciences ,Professions ,Infectious Diseases ,Treatment Outcome ,Medicine ,External Otitis ,Anatomy ,Research Article ,medicine.medical_specialty ,Science ,MEDLINE ,Pain ,Otitis Externa/diagnosis ,03 medical and health sciences ,Quality of life (healthcare) ,Patient satisfaction ,Signs and Symptoms ,Diagnostic Medicine ,General Practitioners ,Physicians ,medicine ,Humans ,Taxonomy ,Medicine and health sciences ,Biology and life sciences ,business.industry ,Objective Evidence ,Otitis Externa ,Health Care ,Otorhinolaryngology ,Ears ,Family medicine ,Quality of Life ,Population Groupings ,Clinical Medicine ,People and places ,business ,computer ,Head ,Delphi - Abstract
Objective Evidence for the management of acute otitis externa (AOE) is limited, with unclear diagnostic criteria and variably reported outcome measures that may not reflect key stakeholder priorities. We aimed to develop 1) a definition, 2) diagnostic criteria and 3) a core outcome set (COS) for AOE. Study design COS development according to Core Outcome Measures in Effectiveness Trials (COMET) methodology and parallel consensus selection of diagnostic criteria/definition. Setting Stakeholders from the United Kingdom. Subjects and methods Comprehensive literature review identified candidate items for the COS, definition and diagnostic criteria. Nine individuals with past AOE generated further patient-centred candidate items. Candidate items were rated for importance by patient and professional (ENT doctors, general practitioners, microbiologists, nurses, audiologists) stakeholders in a three-round online Delphi exercise. Consensus items were grouped to form the COS, diagnostic criteria, and definition. Results Candidate COS items from patients (n = 28) and literature (n = 25) were deduplicated and amalgamated to a final candidate list (n = 46). Patients emphasised quality-of-life and the impact on daily activities/work. Via the Delphi process, stakeholders agreed on 31 candidate items. The final COS covered six outcomes: pain; disease severity; impact on quality-of-life and daily activities; patient satisfaction; treatment-related outcome; and microbiology. 14 candidate diagnostic criteria were identified, 8 reaching inclusion consensus. The final definition for AOE was ‘diffuse inflammation of the ear canal skin of less than 6 weeks duration’. Conclusion The development and adoption of a consensus definition, diagnostic criteria and a COS will help to standardise future research in AOE, facilitating meta-analysis. Consulting former patients throughout development highlighted deficiencies in the outcomes adopted previously, in particular concerning the impact of AOE on daily life.
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- 2021
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15. Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution
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Andrew T. King, Elaine F. Harkness, Emma M. Stapleton, D. Gareth Evans, Scott A. Rutherford, Grace Vassallo, Stavros Stivaros, Roger Laitt, Omar N. Pathmanaban, Claire Forde, Simon Kerrigan, Simon R. Freeman, Martin G. McCabe, Miriam J. Smith, Charlotte Hammerbeck-Ward, Simon K W Lloyd, John Paul Kilday, Catherine McBain, and Owen M. Thomas
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Ependymoma ,Neurofibromatosis 2 ,Cancer Research ,Pediatrics ,medicine.medical_specialty ,Clinical Investigations ,Acoustic neuroma ,Asymptomatic ,Meningioma ,otorhinolaryngologic diseases ,Meningeal Neoplasms ,medicine ,Humans ,Neurofibromatosis type 2 ,Univariate analysis ,Proportional hazards model ,business.industry ,Neuroma, Acoustic ,medicine.disease ,Oncology ,Neurology (clinical) ,Age of onset ,medicine.symptom ,business ,Follow-Up Studies - Abstract
Background Limited data exist on the disease course of neurofibromatosis type 2 (NF2) to guide clinical trial design. Methods A prospective database of patients meeting NF2 diagnostic criteria, reviewed between 1990 and 2020, was evaluated. Follow-up to first vestibular schwannoma (VS) intervention and death was assessed by univariate analysis and stratified by age at onset, era referred, and inheritance type. Interventions for NF2-related tumors were assessed. Cox regression was performed to determine the relationship between individual factors from time of diagnosis to NF2-related death. Results Three hundred and fifty-three patients were evaluated. During 4643.1 follow-up years from diagnosis to censoring, 60 patients (17.0%) died. The annual mean number of patients undergoing VS surgery or radiotherapy declined, from 4.66 and 1.65, respectively, per 100 NF2 patients in 1990-1999 to 2.11 and 1.01 in 2010-2020, as the number receiving bevacizumab increased (2.51 per 100 NF2 patients in 2010-2020). Five patients stopped bevacizumab to remove growing meningioma or spinal schwannoma. 153/353 (43.3%) had at least one neurosurgical intervention/radiation treatment within 5 years of diagnosis. Patients asymptomatic at diagnosis had longer time to intervention and better survival compared to those presenting with symptoms. Those symptomatically presenting 40 years had poorer overall survival than those presenting at 26-39 years (P = .03 and P = .02, respectively) but those presenting between 16 and 39 had shorter time to VS intervention. Individuals with de novo constitutional variants had worse survival than those with de novo mosaic or inherited disease (P = .004). Conclusion Understanding disease course improves prognostication, allowing for better-informed decisions about care.
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- 2020
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16. Imaging in scrotal trauma: a European Society of Urogenital Radiology Scrotal and Penile Imaging Working Group (ESUR-SPIWG) position statement
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Subramaniyan Ramanathan, Jonathan Richenberg, Irene Campo, Vikram S. Dogra, Paul S. Sidhu, Simon Freeman, Dean Y. Huang, Karolina Markiet, Parvati Ramchandani, Katarzyna Skrobisz, Lorenzo E. Derchi, Jane Belfield, Athina C Tsili, Olivera Nikolic, Oliwia Kozak, Laurence Rocher, Francesco Lotti, Michele Bertolotto, Pieter De Visschere, Ramanathan, S., Bertolotto, M., Freeman, S., Belfield, J., Derchi, L. E., Huang, D. Y., Lotti, F., Markiet, K., Nikolic, O., Ramchandani, P., Richenberg, J., Rocher, L., Sidhu, P. S., Skrobisz, K., Tsili, A., De Visschere, P., Campo, I., Kozak, O., and Dogra, V.
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Position statement ,Male ,medicine.medical_specialty ,urologic and male genital diseases ,Trauma ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Scrotum ,Testis ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Neuroradiology ,Ultrasonography ,Modality (human–computer interaction) ,medicine.diagnostic_test ,urogenital system ,Genitourinary system ,business.industry ,Ultrasound ,Doppler ,Penis ,Radiography ,Radiology ,Interventional radiology ,General Medicine ,Peni ,medicine.anatomical_structure ,Testi ,030220 oncology & carcinogenesis ,Elastography ,business ,Human - Abstract
Imaging plays a crucial role in the evaluation of scrotal trauma. Among the imaging modalities, greyscale ultrasound and Colour Doppler ultrasound (CDUS) are the primary techniques with the selective utilisation of advanced techniques such as contrast-enhanced ultrasound (CEUS) and elastography. Despite ultrasound being the mainstay of imaging scrotal trauma, its diagnostic performance is not fully established. Considering these difficulties and their impact on clinical practice, the Scrotal and Penile Imaging Working Group of the European Society of Urogenital Radiology (ESUR-SPIWG) established an expert task force to review the current literature and consolidate their expertise on examination standards and imaging appearances of various entities in scrotal trauma. This paper provides the position statements agreed on by the task force with the aim of providing guidance for the use of imaging especially multiparametric US in scrotal trauma. Key Points • Greyscale and Colour Doppler ultrasound are the mainstay of imaging in patients with scrotal trauma. • Contrast-enhanced ultrasound and elastography are the advanced techniques useful as a problem-solving modality in equivocal cases. • This paper summarises the position statements of the ESUR-SPIWG on the appropriate utilisation of multiparametric ultrasound and other imaging modalities in the evaluation of scrotal trauma.
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- 2020
17. Extracochlear Stimulation of Electrically Evoked Auditory Brainstem Responses (eABRs) Remains the Preferred Pre-implant Auditory Nerve Function Test in an Assessor-blinded Comparison
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Martin O'Driscoll, Andrew Causon, Simon R. Freeman, Kevin J. Munro, Emma Stapleton, and Simon K W Lloyd
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Adult ,Male ,medicine.medical_specialty ,medicine.medical_treatment ,Stimulation ,Audiology ,Evoked Potentials, Auditory, Brain Stem/physiology ,03 medical and health sciences ,0302 clinical medicine ,Cochlear Nerve/physiopathology ,Cochlear implant ,Evoked Potentials, Auditory, Brain Stem ,otorhinolaryngologic diseases ,medicine ,Humans ,030223 otorhinolaryngology ,Cochlear implantation ,Nerve function ,Cochlear Nerve ,Aged ,Auditory Threshold/physiology ,business.industry ,Hearing Tests ,Auditory Threshold ,Middle Aged ,medicine.disease ,Cochlear Implantation ,Sensory Systems ,Hypoplasia ,Cochlear Implants ,Otorhinolaryngology ,Female ,Neurology (clinical) ,Implant ,Brainstem ,business ,030217 neurology & neurosurgery - Abstract
OBJECTIVE: Electrically evoked auditory brainstem responses (eABRs) can be recorded before cochlear implant (CI) surgery to verify auditory nerve function, and is particularly helpful in to assess the function of the auditory nerve in cases of auditory nerve hypoplasia. This is the first study to compare three preimplant eABRs recording techniques: 1) standard extracochlear, 2) novel intracochlear, and 3) conventional intracochlear with the CI. STUDY DESIGN: A within-participants design was used where eABRs were sequentially measured during CI surgery using three methods with stimulation from: 1) an extracochlear electrode placed at the round window niche, 2) two different electrodes on a recently developed Intracochlear Test Array (ITA), and 3) two different electrodes on a CI electrode array. SETTING: New adults implantees (n = 16) were recruited through the Manchester Auditory Implant Centre and eABR measurements were made in theater at the time of CI surgery. PATIENTS: All participants met the clinical criteria for cochlear implantation. Only participants with radiologically normal auditory nerves were recruited to the study. All participants were surgically listed for either a MED-EL Synchrony implant or a Cochlear Nucleus Profile implant, per standard practice in the implant centre. OUTCOME MEASURES: Primary outcome measures were: 1) charge (μC) required to elicit a threshold response, and 2) latencies (ms) in the threshold waveforms. Secondary outcome measures were: 1) morphologies of responses at suprathreshold stimulation levels and 2) wave V growth patterns. RESULTS: eABRs were successfully measured from 15 participants. In terms of primary outcome measures, the charge required to elicit a response using the extracochlear electrode (median = 0.075 μC) was approximately six times larger than all other electrodes and the latency of wave V was approximately 0.5 ms longer when using the extracochlear electrode (mean = 5.1 ms). In terms of secondary outcomes, there were some minor quantitative differences in responses between extracochlear and intracochlear stimulation; in particular, ITA responses were highly variable in quality. The ITA responses were rated poor quality in 33% of recordings and in two instances did not allow for data collection. When not disrupted by open circuits, the median ITA response contained one more waveform than the median extracochlear response. CONCLUSIONS: In this first study comparing intracochlear and extracochlear stimulation, the results show that both can be used to produce an eABR that is representative of the one elicited by the CI. In the majority of cases, extracochlear stimulation was the preferred approach for preimplant auditory nerve function testing because of consistency, recordings that could be analyzed, and because extracochlear placement of the electrode does not require a cochleostomy to insert an electrode.
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- 2019
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18. Validation of the Manchester spoken language development scale (MSLDS)
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A Wallis, M de Kruijf, D Moualed, Lise Henderson, C Fullwood, Simon R. Freeman, and Iain A. Bruce
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Male ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Population ,Audiology ,Deafness ,03 medical and health sciences ,Speech and Hearing ,0302 clinical medicine ,Cochlear implant ,medicine ,Humans ,Correction of Hearing Impairment ,Postoperative Period ,030223 otorhinolaryngology ,education ,Child ,Reliability (statistics) ,education.field_of_study ,Rehabilitation ,Language Tests ,business.industry ,Infant ,Reproducibility of Results ,Usability ,Cochlear Implantation ,Language development ,Cochlear Implants ,Treatment Outcome ,Otorhinolaryngology ,Scale (social sciences) ,Child, Preschool ,Female ,Psychology ,business ,030217 neurology & neurosurgery ,Child Language ,Spoken language - Abstract
Introduction: Standardized outcome measures are importantfor accurately monitoring the language development of pre-lingually deaf children receiving auditory implants. Current commonly used outcome measures are time-consuming,limiting the practicality of regular testing. To address these limitations, the Manchester Spoken Language Development Scale (MSLDS) was developed as a quick and easily applicable interim measurement. This is an 11-point scale designed to provide a streamlined overview of a child's expressive language development. This study describes the MSLDS, evaluates its ease of use and inter-rater reliability, and outlines its application in the paediatric auditory implant population. Methods: Sixteen speech therapists and teachers for the deaf reviewed videos of paediatric cochlear implant assessmentsand rehabilitation sessions at a UK auditory implant centre. Twenty-five videos from fourteen children were used in this validation study. Reviewers were asked to evaluate a child's language development using the MSLDS by assigning a score for each video and to evaluate the ease of use of the scale. Each video wasrated by three different reviewers. Results: MSLDS scores showed a high degree of consistency between raters for each child. 8/25 (32%) videos demonstrated perfect agreement on the MSLDS. In 15/25 (60%) videos, there was a one-point difference between MSLDS scores. The remaining 2/25 (8%) videos varied by 2 points. Statistical analysis demonstrated an intra-class correlation coefficient (ICC) of 0.987, indicating a high level of agreement between users of the scale. Qualitative feedback from the raters suggested further modifications which have been incorporated into the scale. Conclusion: The high inter-rater agreement reflects the potential for the MSLDS to be a reliable tool for monitoring language development in the paediatric auditory implant population.
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- 2020
19. Sporadic vestibular schwannoma: a molecular testing summary
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Adam Shaw, Simon R. Freeman, Miriam J. Smith, Amy E Taylor, Andrew T. King, Philip T Smith, Omar N. Pathmanaban, Simon Tobi, Claire Hartley, Naomi L. Bowers, D. Gareth Evans, Dorothy Halliday, Andrew J Wallace, Simon K W Lloyd, Emma Stapleton, Scott A. Rutherford, Katherine V Sadler, and Charlotte Hammerbeck-Ward
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Oncology ,Adult ,Male ,medicine.medical_specialty ,Neurofibromatosis 2 ,Neurology ,Skin Neoplasms ,Adolescent ,Neurofibromatoses ,Schwannoma ,Germline ,Diagnosis, Differential ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Internal medicine ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,Neurofibromatosis type 2 ,SMARCB1 ,Schwannomatosis ,Child ,Genetics (clinical) ,Genetic testing ,Aged ,Neurofibromin 2 ,medicine.diagnostic_test ,business.industry ,Infant ,Neuroma, Acoustic ,SMARCB1 Protein ,Middle Aged ,medicine.disease ,030220 oncology & carcinogenesis ,Child, Preschool ,Female ,Neurosurgery ,business ,030217 neurology & neurosurgery ,Neurilemmoma ,Transcription Factors - Abstract
ObjectivesCases of sporadic vestibular schwannoma (sVS) have a low rate of association with germline pathogenic variants. However, some individuals with sVS can represent undetected cases of neurofibromatosis type 2 (NF2) or schwannomatosis. Earlier identification of patients with these syndromes can facilitate more accurate familial risk prediction and prognosis.MethodsCases of sVS were ascertained from a local register at the Manchester Centre for Genomic Medicine. Genetic analysis was conducted in NF2 on blood samples for all patients, and tumour DNA samples when available. LZTR1 and SMARCB1 screening was also performed in patient subgroups.ResultsAge at genetic testing for vestibular schwannoma (VS) presentation was younger in comparison with previous literature, a bias resulting from updated genetic testing recommendations. Mosaic or constitutional germline NF2 variants were confirmed in 2% of patients. Pathogenic germline variants in LZTR1 were found in 3% of all tested patients, with a higher rate of 5% in patients SMARCB1 variants were identified within the cohort. Considering all individuals who received tumour DNA analysis, 69% of patients were found to possess two somatic pathogenic NF2 variants, including those with germline LZTR1 pathogenic variants.ConclusionsUndiagnosed schwannoma predisposition may account for a significant minority of apparently sVS cases, especially at lower presentation ages. Loss of NF2 function is a common event in VS tumours and may represent a targetable common pathway in VS tumourigenesis. These data also support the multi-hit mechanism of LZTR1-associated VS tumourigenesis.
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- 2020
20. Ultrasound appearance of SURGICEL® Absorbable Hemostat (oxidised cellulose) following laparoscopic resection of a splenic cyst – A potential diagnostic peril
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Luke Rogers, Simon Freeman, Mark Coleman, and Paul Jenkins
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medicine.medical_specialty ,Splenic cyst ,030219 obstetrics & reproductive medicine ,Radiological and Ultrasound Technology ,business.industry ,Ultrasound ,Echogenicity ,Case Report ,medicine.disease ,030218 nuclear medicine & medical imaging ,Surgery ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Surgicel Absorbable Hemostat ,Radiology, Nuclear Medicine and imaging ,Laparoscopic resection ,Ultrasonography ,Abscess ,business ,Oxidised cellulose - Abstract
We present the case of a 14 year old who underwent laparoscopic marsupialisation of a splenic cyst. Postoperative ultrasound demonstrated an echogenic collection in the surgical bed that was initially misdiagnosed as an infected collection/abscess due to its sonographic appearances but was finally correctly identified as haemostatic material that had been packed into the surgical cavity. We subsequently constructed a tissue phantom containing a compressed ball of SURGICEL (r) Absorbable Hemostat and demonstrated that it showed identical sonographic appearances. Haemostatic agents such as oxidised cellulose are often packed within the operative bed to control microvascular haemorrhage. These agents can be observed on a variety of postoperative imaging modalities, in particular ultrasound and computed tomography, and may cause diagnostic error. The critical importance of understanding the details of the surgical procedure and effective communication between the surgical team and ultrasound practitioner is emphasised to minimise the risk of misdiagnosis and unnecessary further imaging and radiological/surgical intervention.
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- 2020
21. Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene
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Mark Kellett, Omar N. Pathmanaban, Andrew T. King, Charlotte Hammerbeck-Ward, Jemma Bischetsrieder, Patrick R. Axon, Scott A. Rutherford, Miriam J. Smith, Simon R. Freeman, Jaishri O. Blakeley, D. Gareth Evans, Owen M. Thomas, Claire Hartley, Roger Laitt, Andrew J Wallace, and Simon K W Lloyd
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0301 basic medicine ,Adult ,Pediatrics ,medicine.medical_specialty ,Otology/Neurotology ,Adolescent ,Context (language use) ,Nf2 gene ,Retrospective database ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Older patients ,vestibular schwannoma ,Genes, Neurofibromatosis 2 ,Original Reports ,otorhinolaryngologic diseases ,Medicine ,Humans ,Neurofibromatosis type 2 ,Child ,Uncertain significance ,Aged ,Retrospective Studies ,business.industry ,Unilateral vestibular schwannoma ,familial ,Unilateral ,Neuroma, Acoustic ,Middle Aged ,medicine.disease ,Clinical Practice ,030104 developmental biology ,Otorhinolaryngology ,NF2 ,Child, Preschool ,LZTR1 ,business ,030217 neurology & neurosurgery - Abstract
Objectives/hypothesis Unilateral vestibular schwannoma (VS) occurs with a lifetime risk of around 1 in 1,000 and is due to inactivation of the NF2 gene, either somatically or from a constitutional mutation. It has been postulated that familial occurrence of unilateral VS occurs more frequently than by chance, but no causal mechanism has been confirmed. Study design Retrospective database analysis. Methods The likelihood of chance occurrence of unilateral VS, or occurring in the context of neurofibromatosis type 2 (NF2), was assessed using national UK audit data and data from the national NF2 database. Families with familial unilateral VS (occurrence in first- and second-degree relatives) were assessed for constitutional NF2 and LZTR1 genetic variants, and where possible the tumor was also analyzed. Results Approximately 1,000 cases of unilateral VS occurred annually in the United Kingdom between 2013 and 2016. Of these, 2.5 may be expected to have a first-degree relative who had previously developed a unilateral VS. The likelihood of this occurring in NF2 was considered to be as low as 0.05 annually. None of 28 families with familial unilateral VS had a constitutional NF2 intragenic variant, and in nine cases where the VS was analyzed, both mutational events in NF2 were identified and excluded from the germline. Only three variants of uncertain significance were found in LZTR1. Conclusions Familial occurrence of unilateral VS is very unlikely to be due to a constitutional NF2 or definitely pathogenic LZTR1 variant. The occurrence of unilateral VS in two or more first-degree relatives is likely due to chance. This phenomenon may well increase in clinical practice with increasing use of cranial magnetic resonance imaging in older patients. Level of evidence 2b Laryngoscope, 129:967-973, 2019.
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- 2018
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22. Schwannomatosis: a genetic and epidemiological study
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Simon R. Freeman, Owen M. Thomas, Claire Hartley, Chris Duff, Roger Laitt, Omar N. Pathmanaban, Miriam J. Smith, Andrew J Wallace, D. Gareth Evans, Simon K W Lloyd, Rosalie E. Ferner, John Ealing, Naomi L. Bowers, Scott A. Rutherford, Amy Taylor, Charlotte Hammerbeck-Ward, Dorothy Halliday, Mark Kellett, Simon Tobi, Andrew T. King, and Elaine F. Harkness
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Adult ,Male ,Neurofibromatosis 2 ,Pediatrics ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,Databases, Factual ,Neurofibromatoses ,Population ,Prevalence ,SMARCB1 ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,vestibular schwannoma ,Epidemiology ,otorhinolaryngologic diseases ,medicine ,Humans ,education ,Schwannomatosis ,Aged ,Aged, 80 and over ,schwannomatosis ,Neurofibromin 2 ,education.field_of_study ,business.industry ,Incidence ,Incidence (epidemiology) ,Mean age ,SMARCB1 Protein ,Middle Aged ,medicine.disease ,Psychiatry and Mental health ,England ,030220 oncology & carcinogenesis ,Life expectancy ,Female ,Surgery ,Neurology (clinical) ,LZTR1 ,business ,Neurilemmoma ,030217 neurology & neurosurgery ,Transcription Factors - Abstract
ObjectivesSchwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2.MethodsSchwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4.8 million) and from across the UK. Point prevalence and birth incidence were calculated from regional birth statistics. Genetic analysis was also performed on NF2, LZTR1 and SMARCB1 on blood and tumour DNA samples when available.ResultsRegional prevalence for schwannomatosis and NF2 were 1 in 126 315 and 50 500, respectively, with calculated birth incidences of 1 in 68 956 and 1 in 27 956. Mosaic NF2 causes a substantial overlap with schwannomatosis resulting in the misdiagnosis of at least 9% of schwannomatosis cases. LZTR1-associated schwannomatosis also causes a small number of cases that are misdiagnosed with NF2 (1%–2%), due to the occurrence of a unilateral vestibular schwannoma. Patients with schwannomatosis had lower numbers of non-vestibular cranial schwannomas, but more peripheral and spinal nerve schwannomas with pain as a predominant presenting symptom. Life expectancy was significantly better in schwannomatosis (mean age at death 76.9) compared with NF2 (mean age at death 66.2; p=0.004).ConclusionsWithin the highly ascertained North-West England population, schwannomatosis has less than half the birth incidence and prevalence of NF2.
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- 2018
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23. The EFSUMB Guidelines and Recommendations for the Clinical Practice of Contrast-Enhanced Ultrasound (CEUS) in Non-Hepatic Applications: Update 2017 (Short Version)
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Chris J Harvey, Paul S. Sidhu, Luca Savelli, Carlos Nicolau, Fabio Piscaglia, A. Saftoiu, Vito Cantisani, Eva Bartels, Annamaria Deganello, Michele Bertolotto, Francesco Prada, Hessel Wijkstra, Simon Freeman, David O. Cosgrove, Christian Pállson Nolsøe, Ernst Michael Jung, Maria Franca Meloni, Mirko D'Onofrio, Francesco Maria Drudi, Helmut Prosch, Christian Jenssen, Hans Peter Weskott, Maija Radzina, Christoph F. Dietrich, Dirk-André Clevert, Edward Leen, Nathalie Lassau, Fabrizio Calliada, Odd Helge Gilja, Andrea Klauser, Sidhu PS, Cantisani V, Dietrich CF, Gilja OH, Saftoiu A, Bartels E, Bertolotto M, Calliada F, Clevert DA, Cosgrove D, Deganello A, D'Onofrio M, Drudi FM, Freeman S, Harvey C, Jenssen C, Jung EM, Klauser AS, Lassau N, Meloni MF, Leen E, Nicolau C, Nolsoe C, Piscaglia F, Prada F, Prosch H, Radzina M, Savelli L, Weskott HP, Wijkstra H., Sidhu, P. S., Cantisani, V., Dietrich, C. F., Gilja, O. H., Saftoiu, A., Bartels, E., Bertolotto, M., Calliada, F., Clevert, D. -A., Cosgrove, D., Deganello, A., D'Onofrio, M., Drudi, F. M., Freeman, S., Harvey, C., Jenssen, C., Jung, E. -M., Klauser, A. S., Lassau, N., Meloni, M. F., Leen, E., Nicolau, C., Nolsoe, C., Piscaglia, F., Prada, F., Prosch, H., Radzina, M., Savelli, L., Weskott, H. -P., and Wijkstra, H.
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EFSUMB Guidelines, vascular ,urinary tract ,neurology ,musculoskeletal system ,head ,neck ,Adult ,Male ,head/neck ,Sulfur Hexafluoride ,Contrast Media ,vascular ,Female ,Humans ,Image Enhancement ,Liver ,Liver Neoplasms ,Phospholipids ,Ultrasonography ,Practice Guidelines as Topic ,030204 cardiovascular system & hematology ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,EFSUMB Guidelines ,Medicine ,Radiology, Nuclear Medicine and imaging ,business.industry ,Ultrasound ,Head neck ,Image enhancement ,Phospholipid ,Liver Neoplasm ,business ,Nuclear medicine ,Human - Abstract
The updated version of the EFSUMB guidelines on the application of non-hepatic contrast-enhanced ultrasound (CEUS) deals with the use of microbubble ultrasound contrast outside the liver in the many established and emerging applications.Die aktualisierte Version der EFSUMB-Leitlinien für die Anwendung von nicht-hepatischem kontrastverstärktem Ultraschall (CEUS) befasst sich mit der Verwendung von Mikrobläschen Ultraschall-Kontrastmitteln außerhalb der Leber in zahlreichen etablierten und neu entstehenden Einsatzbereichen.
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- 2018
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24. Translabyrinthine resection of NF2 associated vestibular schwannoma with cochlear implant insertion
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Simon K L Lloyd, Simon R Freeman, Martin O'Driscoll, Omar N. Pathmanaban, Laurence Johann Glancz, Cathal John Hannan, Matthew Edward Smith, Andrew T. King, Priya Sharma, Scott Alexander Rutherford, D. G. R. Evans, and Charlotte Hammerbeck-Ward
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Vestibular system ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Schwannoma ,medicine.disease ,Resection ,Surgery ,Cochlear implant ,otorhinolaryngologic diseases ,Medicine ,Pharmacology (medical) ,sense organs ,business - Abstract
The authors present the case of a 24-year-old female with neurofibromatosis type 2. Growth of the left vestibular schwannoma and progressive hearing loss prompted the decision to proceed to translabyrinthine resection with cochlear nerve preservation and cochlear implant insertion. Complete resection with preservation of the facial and cochlear nerves was achieved. The patient had grade 1 facial function and was discharged on postoperative day 4 following suturing of a minor CSF leak. This case highlights the feasibility of cochlear nerve preservation and cochlear implant insertion in appropriately selected patients, offering a combination of effective tumor control and hearing rehabilitation. The video can be found here: https://stream.cadmore.media/r10.3171/2021.7.FOCVID21122
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- 2021
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25. Hearing optimisation in neurofibromatosis type 2: A systematic review
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Andrew T. King, Martin O'Driscoll, Deborah Mawman, Scott A. Rutherford, Simon K. W. Lloyd, D. G. Evans, Charlotte Hammerbeck-Ward, and Simon R. Freeman
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Neurofibromatosis 2 ,medicine.medical_specialty ,business.industry ,Hearing loss ,medicine.medical_treatment ,Acoustic neuroma ,Audiology ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Systematic review ,Otorhinolaryngology ,Quality of life ,Cochlear implant ,otorhinolaryngologic diseases ,Humans ,Medicine ,Sensorineural hearing loss ,medicine.symptom ,Neurofibromatosis type 2 ,Neurofibromatosis ,Hearing Loss ,030223 otorhinolaryngology ,business ,030217 neurology & neurosurgery - Abstract
Background It is common for patients with neurofibromatosis type 2 to develop bilateral profound hearing loss hearing loss, and this is one of the main determinants of quality of life in this patient group. Objectives The aim of this systematic review was to review the current literature regarding hearing outcomes of treatments for vestibular schwannomas in neurofibromatosis type 2 including conservative and medical management, radiotherapy, hearing preservation surgery and auditory implantation in order to determine the most effective way of preserving or rehabilitating hearing. Search strategy A MESH search in PubMed using search terms (('Neurofibromatosis 2' [Mesh]) AND 'Neuroma, Acoustic'[Mesh]) AND 'Hearing Loss' [Mesh] was performed. A search using keywords was also performed. Studies with adequate hearing outcome data were included. With the exception of the cochlear implant studies (cohort size was very small), case studies were excluded. Evaluation method The GRADE system was used to assess quality of publication. Formal statistical analysis of data was not performed because of very heterogenous data reporting. Results Conservative management offers the best chance of hearing preservation in stable tumours. The use of bevacizumab probably improves the likelihood of hearing preservation in growing tumours in the short term and is probably more effective than hearing preservation surgery and radiotherapy in preserving hearing. Of the hearing preservation interventions, hearing preservation surgery probably offers better hearing preservation rates than radiotherapy for small tumours but recurrence rates for hearing preservation surgery were high. For patients with profound hearing loss, cochlear implantation provides significantly better auditory outcomes than auditory brainstem implantation. Patients with untreated stable tumours are likely to achieve the best outcomes from cochlear implantation. Those who have had their tumours treated with surgery or radiotherapy do not gain as much benefit from cochlear implantation than those with untreated tumours. Conclusions This review summarises the current literature related to hearing preservation/rehabilitation in patients with NF2. Whilst it provides indicative data, the quality of the data was low and should be interpreted with care. It is also important to consider that the management of vestibular schwannomas in NF2 is complex and decision-making is determined by many factors, not just the need to preserve hearing.
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- 2017
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26. Ultrasound evaluation of varicoceles: guidelines and recommendations of the European Society of Urogenital Radiology Scrotal and Penile Imaging Working Group (ESUR-SPIWG) for detection, classification, and grading
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Subramaniyan Ramanathan, Mustafa Secil, Ahmet Tuncay Turgut, Jane Belfield, Lorenzo E. Derchi, Michele Bertolotto, Dean Y. Huang, Athina C. Tsili, Laurence Rocher, Vikram S. Dogra, Pietro Pavlica, Paul S. Sidhu, Jonathan Richenberg, Karolina Markiet, Francesco Lotti, Simon Freeman, Olivera Nikolic, Michał Studniarek, Katarzyna Skrobisz, Parvati Ramchandani, İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Turgut, Ahmet Tuncay, Freeman, S., Bertolotto, M., Richenberg, J., Belfield, J., Dogra, V., Huang, D. Y., Lotti, F., Markiet, K., Nikolic, O., Ramanathan, S., Ramchandani, P., Rocher, L., Secil, M., Sidhu, P. S., Skrobisz, K., Studniarek, M., Tsili, A., Tuncay Turgut, A., Pavlica, P., and Derchi, L. E.
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Male ,medicine.medical_specialty ,Consensus ,Varicocele ,030218 nuclear medicine & medical imaging ,Male infertility ,03 medical and health sciences ,0302 clinical medicine ,Scrotum ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Spermatogenesis ,Grading (tumors) ,Infertility, Male ,Neuroradiology ,Ultrasonography ,Evidence-Based Medicine ,medicine.diagnostic_test ,Infertility, male ,Ultrasonography, Doppler ,business.industry ,Doppler ,Interventional radiology ,General Medicine ,Evidence-based medicine ,Guideline ,medicine.disease ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Infertility ,Radiology ,business ,Penis - Abstract
Turgut, Ahmet Tuncay (isu author) Varicoceles are relatively common particularly in asymptomatic men and are even more prevalent in subfertile men, representing the most common potentially correctable cause of male infertility. Ultrasound (US) is the imaging modality of choice for varicocele evaluation, but there is no widely accepted consensus on examination technique, diagnostic criteria, or classification. In view of this uncertainty, the guideline writing group (WG) of the European Society of Urogenital Radiology (ESUR) Scrotal and Penile Imaging Working Group (ESUR-SPIWG) undertook a literature review and assessment of the quality of relevant evidence. The group then produced evidence-based recommendations for varicocele US examination, interpretation, and classification by consensus agreement. The results are presented in the form of 15 clinical questions with a brief summary of the relevant evidence and the authorised recommendations from the SPIWG. This paper provides a short summary of the evidence evaluation and the complete recommendations. Key Points center dot Varicocele is a common clinical problem; it is highly prevalent amongst subfertile men and the most common potentially correctable cause of male infertility. center dot Ultrasound is the imaging modality of choice for varicocele assessment, but there is no generally agreed consensus on the US examination technique or the criteria that should be used for diagnosis, grading, and classification. center dot This paper summarises the recommendations of the ESUR-SPIWG for standardising the US assessment of varicoceles. This includes examination technique, image interpretation, classification, and reporting. WOS:000501139000002 31332561 Q1
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- 2020
27. An unusual pelvic mass: Contrast-enhanced sonographic diagnosis of pelvic splenosis
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Ross Kruger and Simon Freeman
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medicine.medical_specialty ,Splenic trauma ,business.industry ,media_common.quotation_subject ,Ultrasound ,Pelvic mass ,030204 cardiovascular system & hematology ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Splenic Tissue ,Medicine ,Contrast (vision) ,Radiology, Nuclear Medicine and imaging ,Radiology ,business ,Pathological ,media_common ,Contrast-enhanced ultrasound - Abstract
Splenosis is an unusual condition representing auto-transplantation of splenic tissue following splenic trauma or surgery. When detected on imaging studies, the splenosis deposits are usually misinterpreted as pathological masses. We present a case where a pelvic mass incidentally visualized on an MRI examination, was proven to represent a deposit of splenosis by contrast enhanced ultrasound (CEUS). CEUS demonstrated persistent late-phase enhancement characteristic of splenic tissue. Ultrasound practitioners should be aware of this condition when an unusual abdominal or pelvic mass is encountered in a patient with a history of splenic trauma or surgery. CEUS is ideally suited to confirming the diagnosis.
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- 2018
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28. The microenvironment in sporadic and neurofibromatosis type II-related vestibular schwannoma: the same tumor or different? A comparative imaging and neuropathology study
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Carmine Antonio Donofrio, Scott A. Rutherford, Ka-Loh Li, Alan Jackson, Andrea Wadeson, Erjon Agushi, D. Gareth Evans, Simon K W Lloyd, Daniel Lewis, Claire O'Leary, Charlotte Hammerbeck-Ward, Emma M. Stapleton, Federico Roncaroli, David Coope, X. P. Zhu, Cathal John Hannan, Andrew T. King, Simon R. Freeman, Ibrahim Djoukhadar, Ricky Williams, and Omar N. Pathmanaban
- Subjects
CD31 ,Male ,Vascular Endothelial Growth Factor A ,Pathology ,Angiogenesis ,chemistry.chemical_compound ,Neuroma ,0302 clinical medicine ,Vascularity ,Tumor-Associated Macrophages ,Tumor Microenvironment ,Neurofibromatosis type 2 ,Neovascularization, Pathologic ,General Medicine ,Neuroma, Acoustic ,Middle Aged ,VEGF ,Magnetic Resonance Imaging ,Neoplasm Proteins ,Vascular endothelial growth factor ,DCE-MRI ,Inflammation ,NF2 ,Oncology ,Vestibular schwannoma ,Adult ,Anisotropy ,Body Water ,Diffusion Magnetic Resonance Imaging ,Female ,Humans ,Microcirculation ,Neurofibromatosis 2 ,Vascular Endothelial Growth Factor Receptor-1 ,Young Adult ,030220 oncology & carcinogenesis ,Immunohistochemistry ,medicine.symptom ,medicine.medical_specialty ,03 medical and health sciences ,medicine ,Neurofibromatosis ,Acoustic ,Neovascularization ,Pathologic ,Tumor microenvironment ,business.industry ,medicine.disease ,chemistry ,business ,030217 neurology & neurosurgery - Abstract
OBJECTIVE Inflammation and angiogenesis may play a role in the growth of sporadic and neurofibromatosis type 2 (NF2)–related vestibular schwannoma (VS). The similarities in microvascular and inflammatory microenvironment have not been investigated. The authors sought to compare the tumor microenvironment (TME) in sporadic and NF2-related VSs using a combined imaging and tissue analysis approach. METHODS Diffusion MRI and high-temporal-resolution dynamic contrast-enhanced (DCE) MRI data sets were prospectively acquired in 20 NF2-related and 24 size-matched sporadic VSs. Diffusion metrics (mean diffusivity, fractional anisotropy) and DCE-MRI–derived microvascular biomarkers (transfer constant [Ktrans], fractional plasma volume, tissue extravascular-extracellular space [ve], longitudinal relaxation rate, tumoral blood flow) were compared across both VS groups, and regression analysis was used to evaluate the effect of tumor size, pretreatment tumor growth rate, and tumor NF2 status (sporadic vs NF2-related) on each imaging parameter. Tissues from 17 imaged sporadic VSs and a separate cohort of 12 NF2-related VSs were examined with immunohistochemistry markers for vessels (CD31), vessel permeability (fibrinogen), and macrophage density (Iba1). The expression of vascular endothelial growth factor (VEGF) and VEGF receptor 1 was evaluated using immunohistochemistry, Western blotting, and double immunofluorescence. RESULTS Imaging data demonstrated that DCE-MRI–derived microvascular characteristics were similar in sporadic and NF2-related VSs. Ktrans (p < 0.001), ve (p ≤ 0.004), and tumoral free water content (p ≤ 0.003) increased with increasing tumor size and pretreatment tumor growth rate. Regression analysis demonstrated that with the exception of mean diffusivity (p < 0.001), NF2 status had no statistically significant effect on any of the imaging parameters or the observed relationship between the imaging parameters and tumor size (p > 0.05). Tissue analysis confirmed the imaging metrics among resected sporadic VSs and demonstrated that across all VSs studied, there was a close association between vascularity and Iba1+ macrophage density (r = 0.55, p = 0.002). VEGF was expressed by Iba1+ macrophages. CONCLUSIONS The authors present the first in vivo comparative study of microvascular and inflammatory characteristics in sporadic and NF2-related VSs. The imaging and tissue analysis results indicate that inflammation is a key contributor to TME and should be viewed as a therapeutic target in both VS groups.
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- 2019
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29. MRI of the scrotum: Recommendations of the ESUR Scrotal and Penile Imaging Working Group
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Ahmet Tuncay Turgut, Raymond Oyen, Athina C. Tsili, Alexandra Ntorkou, Vikram S. Dogra, Simon Freeman, Jonathan Richenberg, Michał Studniarek, Mustafa Secil, Lorenzo E. Derchi, Parvati Ramchandani, Michele Bertolotto, Jane Belfield, Laurence Rocher, Tsili, Athina C., Bertolotto, Michele, Turgut, Ahmet Tuncay, Dogra, Vikram, Freeman, Simon, Rocher, Laurence, Belfield, Jane, Studniarek, Michal, Ntorkou, Alexandra, Derchi, Lorenzo E., Oyen, Raymond, Ramchandani, Parvati, Secil, Mustafa, and Richenberg, Jonathan
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Male ,endocrine system ,medicine.medical_specialty ,Radiology, Nuclear Medicine and Imaging ,Consensus ,Urology ,Acute scrotum ,urologic and male genital diseases ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Nuclear Medicine and Imaging ,Scrotum ,Testis ,medicine ,Protocol ,Humans ,Radiology, Nuclear Medicine and imaging ,Evidence-based medicine/standard ,Magnetic resonance imaging (MRI) ,Societies, Medical ,Neuroradiology ,medicine.diagnostic_test ,business.industry ,Evidence-based medicine/standards ,Protocols ,Ultrasound ,Magnetic resonance imaging ,Interventional radiology ,General Medicine ,Evidence-based medicine ,Magnetic Resonance Imaging ,Europe ,medicine.anatomical_structure ,Testi ,030220 oncology & carcinogenesis ,Dynamic contrast-enhanced MRI ,Radiology ,business ,Penis - Abstract
The Scrotal and Penile Imaging Working Group (SPI-WG) appointed by the board of the European Society of Urogenital Radiology (ESUR) has produced recommendations for magnetic resonance imaging (MRI) of the scrotum. The SPI-WG searched for original and review articles published before September 2016 using the Pubmed and Medline databases. Keywords used were ‘magnetic resonance imaging’, 'testis or testicle or testicular', 'scrotum', 'intratesticular', 'paratesticular', 'extratesticular' 'diffusion-weighted', 'dynamic MRI'. Consensus was obtained among the members of the subcommittee. The expert panel proposed recommendations using Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. The recommended MRI protocol should include T1-, T2-weighted imaging, diffusion-weighted imaging and dynamic contrast-enhanced MRI. Scrotal MRI can be clinically applied for lesion characterisation (primary), including both intratesticular and paratesticular masses, differentiation between germ-cell and non-germ-cell neoplasms (evolving), characterisation of the histological type of testicular germ cell neoplasms (TGCNs, in selected cases), local staging of TGCNs (primary), acute scrotum (in selected cases), trauma (in selected cases) and undescended testes (primary). The ESUR SPI-WG produced this consensus paper in which the existing literature on MRI of the scrotum is reviewed. The recommendations for the optimal imaging technique and clinical indications are presented. • This report presents recommendations for magnetic resonance imaging (MRI) of the scrotum. • Imaging acquisition protocols and clinical indications are provided. • MRI is becoming established as a worthwhile second-line diagnostic tool for scrotal pathology.
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- 2018
30. Compliance with cochlear implantation in children subsequently diagnosed with autism spectrum disorder
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Mira Sadadcharam, Iain A. Bruce, Monica Rodriguez Valero, Simon R Freeman, Kevin Green, Simon K W Lloyd, and Lise Henderson
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Male ,Pediatrics ,medicine.medical_specialty ,Autism Spectrum Disorder ,Hearing loss ,medicine.medical_treatment ,Tertiary referral centre ,Deafness ,Case review ,03 medical and health sciences ,Speech and Hearing ,Postoperative Complications ,0302 clinical medicine ,Primary outcome ,Surveys and Questionnaires ,Cochlear implant ,mental disorders ,medicine ,Humans ,030212 general & internal medicine ,Child ,Cochlear implantation ,Retrospective Studies ,business.industry ,Infant ,Retrospective cohort study ,medicine.disease ,Cochlear Implantation ,Treatment Outcome ,Otorhinolaryngology ,Autism spectrum disorder ,Child, Preschool ,Patient Compliance ,Female ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
To assess the compliance with cochlear implantation (CI) in children subsequently diagnosed with autism spectrum disorder (ASD).This was a retrospective case review and survey performed at a tertiary referral centre. Children meeting the criteria for CI who were implanted between 1989 and 2015 and who subsequently received a diagnosis of ASD were included. The primary outcome measure was to assess compliance with CI in children subsequently diagnosed with ASD. Secondary outcome measures included assessment of pre-CI risk factors that may have identified children at higher risk of a subsequent diagnosis of ASD, as well as the benefit obtained by these children following CI.1050 children were implanted between 1989 and 2015. Of these, 22 children were diagnosed with ASD after receiving their CI. The average age at implantation was 2.6 years (median 3, range 1-8 years). The average age for diagnosis of ASD was 5 years, approximately 2 years (median 22 months, range 2-85 months) following CI. Of these, 16/22 (712.7%) regularly use their CI. 6/22 (27.2%) children became non-users of their implant. Some degree of verbal communication was used by 13/22 (59%) of our studied group.There is a range of level of disabilities in ASD, with some relatively minor social communication difficulties through to severe language, cognitive, and behavioural difficulties. Compliance with CI is variable and appears to correlate with the severity of the ASD. Preoperative counselling should include information about the possible impact of later diagnosed disabilities such as ASD on performance.
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- 2016
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31. Consensus statement: Long-term results of ABI in children with complex inner ear malformations and decision making between CI and ABI
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Martin O'Driscoll, Andrzej Zarowski, Gunnar Nyberg, Meltem Çiğdem Kirazlı, Münir Demir Bajin, Yıldırım Ahmet Bayazıt, Julie Kosaner, Shakeel R. Saeed, Burcak Bilginer, Burce Ozgen Mocan, Manuel Manrique, Ameet Kishore, Esra Yücel, J. W. Casselman, Nebil Göksu, Mark S. Schwartz, Levent Sennaroglu, Robert Behr, Hilal Burcu Ozkan, Thomas Lenarz, Robert V. Shannon, Erwin Offeciers, Roland Laszig, Daniel J. Lee, Lutz Gärtner, Marek Polak, Gamze Atay, Paul R. Kileny, Abdulrahman Hagr, Merve Ozbal Batuk, Lilian Colletti, Gonca Sennaroglu, Mohan Kameswaran, Filiz Aslan, J. M. Hans, Sarp Sarac, In Seok Moon, Betul Cicek Cinar, Helge Rask-Andersen, Mehmet Yarali, Simon R. Freeman, Ahmet Ataş, Alicia Huarte, Fatma Esen Aydinli, and Vittorio Colletti
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Male ,Reoperation ,Pediatrics ,medicine.medical_specialty ,Statement (logic) ,Clinical Decision-Making ,Treatment outcome ,MEDLINE ,Deafness ,Auditory Brain Stem Implantation ,Time ,CI and ABI ,03 medical and health sciences ,Speech and Hearing ,0302 clinical medicine ,medicine ,Humans ,Child ,030223 otorhinolaryngology ,Children With Complex ,Long-Term Results ,business.industry ,Contraindications ,Age Factors ,Consensus Statement ,Infant ,Long term results ,Malformations and Decision ,Cochlear Implantation ,Cochlear Implants ,Treatment Outcome ,Otorhinolaryngology ,Child, Preschool ,Ear, Inner ,Female ,ABI ,business ,030217 neurology & neurosurgery - Abstract
7th IEEE Asia-Pacific Conference on Applied Electromagnetics, APACE 2016 -- 11 December 2016 through 13 December 2016 -- 127632 ‘Second Consensus Meeting on Management of Complex Inner Ear Malformations: Long Term Results of ABI in Children and Decision Making Between CI and ABI’ took place on 5–6 April 2013 in Kyrenia, Northern Cyprus with the participation of 20 centers from 11 countries. These centers presented their auditory brainstem implantation (ABI) experience in children and infants and also provided the selection criteria and cochlear implant (CI) results in patients with an abnormal cochlea and nerve. In addition, Cochlear and Med El companies provided presentations regarding solutions to problems during revision surgery and future projections of device technology. According to the results from different centers, it was evident that an ABI is capable of providing hearing sensation in prelingually deafened children with complex inner ear malformations and diseases. It is possible to obtain a pure tone average with an ABI between 30 and 60 dB HL in most of these patients. It has been observed that the majority of children obtain Categories of Auditory Performance (CAP) scores around 5, but occasionally certain ABI users obtained scores of up to CAP 8-II, NEAP-Nottingham Early Assessment Package. The Ear Foundation 2009). CAP scores tend to increase with earlier implantation, i.e. under 2 years of age. However, after 3 years of use, it usually reaches a plateau. Children with additional disorders cannot reach CAP scores of children without disorders. However, they obtain an improvement of cognitive functions but duration of ABI use and increasing chronological age also play a role in this improvement.
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- 2016
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32. Twinkle artefact in the ultrasound diagnosis of superficial epidermoid cysts
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Rose Thomas, Richard Clarke, Simon Freeman, and Priya Suresh
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Pathology ,medicine.medical_specialty ,Radiological and Ultrasound Technology ,business.industry ,Ultrasound ,Epidermoid cyst ,030204 cardiovascular system & hematology ,medicine.disease ,respiratory tract diseases ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Colour doppler ultrasound ,Radiology, Nuclear Medicine and imaging ,Radiology information systems ,business ,Original Research ,Proliferating trichilemmal cyst - Abstract
Aim The aim of the study was to evaluate whether the twinkle artefact is a valuable feature in the sonographic diagnosis of superficial epidermoid cysts. Materials and methods A retrospective search was undertaken of our institution’s Radiology Information System and pathology database to identify cases of superficial masses showing the twinkle artefact that proceeded to surgical excision. Results Eighteen superficial masses demonstrating the twinkle artefact were identified that were submitted for pathological analysis. Of these, 17 were confirmed to represent epidermoid cysts and only 1 case had an alternative diagnosis (proliferating trichilemmal cyst). Conclusion The presence of the twinkle artefact appears to be a specific and valuable ancillary sonographic feature for the diagnosis of superficial epidermoid cysts.
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- 2016
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33. Cochlear implantation in early deafened, late implanted adults: Do they benefit?
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Raghunandhan Sampath Kumar, Simon M Freeman, Divyan Sankaran, Christine Melling, Martin O'Driscoll, Simon K W Lloyd, and Deborah Mawman
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Adult ,Male ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Deafness ,Audiology ,Time-to-Treatment ,Young Adult ,03 medical and health sciences ,Speech and Hearing ,0302 clinical medicine ,Quality of life ,Surveys and Questionnaires ,Cochlear implant ,otorhinolaryngologic diseases ,Humans ,Medicine ,Young adult ,030223 otorhinolaryngology ,Cochlear implantation ,Aged ,Retrospective Studies ,Speech discrimination test ,business.industry ,Environmental sounds ,Case-control study ,Retrospective cohort study ,Middle Aged ,Cochlear Implantation ,Cochlear Implants ,Treatment Outcome ,Otorhinolaryngology ,Case-Control Studies ,Quality of Life ,Speech Discrimination Tests ,Speech Perception ,Female ,business ,030217 neurology & neurosurgery - Abstract
The aim of this study was to quantify the benefit gained from cochlear implantation in pre- or peri-lingually deafened patients who were implanted as adults Methods: This was a retrospective case-control study. Auditory (BKB/CUNY/3AFC/Environmental sounds), quality of life (GBI/HUI3) and cognitive (customized questionnaire) outcomes in 26 late implanted pre- or peri-lingually deafened adults were compared to those of 30 matched post-lingually deafened, traditional cochlear implant users.There was a statistically significant improvement in all scores in the study group following cochlear implantation. BKB scores for cases was 49.8% compared to 83.6% for controls (p=0.037). CUNY scores for cases was 61.7% compared to 90.3% for controls (p=0.022). The 3AFC and environmental sounds scores were also better in controls compared to cases but the difference was not statistically significant. Quality of life scores improved following implantation in cases and controls but the improvement was only statistically significant in the controls. There was a 7.7% non-user rate in the cases. There were no non-users in the control group.Early deafened,,late implanted patients can benefit audiologically from cochlear implantation and in this study the improvement in speech discrimination scores was greater than expected perhaps reflecting careful selection of patients. Nevertheless, audiological benefits are limited compared to traditional cochlear implant recipients with the implant acting as an aid to lip reading in most cases.With careful selection of candidates, cochlear implantation is beneficial in early deafened, late implanted patients.
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- 2016
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34. Moving into primary care groups
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Freeman Simon and Wilke Gerhard
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medicine.medical_specialty ,business.industry ,Family medicine ,medicine ,Primary care ,business - Published
- 2018
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35. EFSUMB Guidelines on Interventional Ultrasound (INVUS), Part II
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Mirko D'Onofrio, A. Ignee, Maija Radzina, Christoph F. Dietrich, M. Essig, Markus G. Mohaupt, Adnan Kabaalioglu, Adrian Saftoiu, Carlos Nicolau, Carla Serra, Paul S. Sidhu, Jean Michel Correas, Knut Brabrand, Ioan Sporea, Dieter Nürnberg, Roald Flesland Havre, Xin-Wu Cui, N. Gritzmann, Vito Cantisani, Zeno Spârchez, Christian Pállson Nolsøe, T. Lorentzen, Odd Helge Gilja, Christian Jenssen, and Simon Freeman
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Interventional Ultrasound ,medicine.medical_specialty ,Diagnostic ultrasound ,medicine.diagnostic_test ,business.industry ,Ultrasound ,Biopsy ,medicine ,Radiology, Nuclear Medicine and imaging ,Evidence-based medicine ,Radiology ,Ultrasonography ,business - Abstract
This is the second part of the series on interventional ultrasound guidelines of the Federation of Societies for Ultrasound in Medicine and Biology (EFSUMB). It deals with the diagnostic interventional procedure. General points are discussed which are pertinent to all patients, followed by organ-specific imaging that will allow the correct pathway and planning for the interventional procedure. This will allow for the appropriate imaging workup for each individual interventional procedure (Long version).
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- 2015
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36. Clinical and Radiological Guidance in Managing Facial Nerve Schwannomas
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Richard Heyes, Richard T. Ramsden, Simon R. Freeman, Jayesh Doshi, Charlotte Lucy Ward, Simon K W Lloyd, Andrew T. King, Gillian Potter, and Scott A. Rutherford
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Adult ,Male ,medicine.medical_specialty ,Hearing loss ,Schwannoma ,medicine ,Humans ,Cranial Nerve Neoplasms ,Aged ,Retrospective Studies ,Aged, 80 and over ,business.industry ,Facial weakness ,Retrospective cohort study ,Middle Aged ,Cerebellopontine angle ,medicine.disease ,Facial nerve ,Sensory Systems ,Surgery ,Facial Nerve ,Treatment Outcome ,Otorhinolaryngology ,Radiological weapon ,Female ,Neurology (clinical) ,Facial Nerve Diseases ,Presentation (obstetrics) ,medicine.symptom ,business ,Neurilemmoma - Abstract
Objective To present a review of all patients diagnosed with a facial nerve schwannoma (FNS) managed in our center over almost two decades, and suggest guidelines for their classification and management. Study design Retrospective case review Setting Tertiary referral center Patients Twenty-eight patients with a facial nerve schwannoma Intervention Conservative or surgical management depending on clinical and radiological features Main outcome measure Patient demographics, site of tumor, and clinical symptoms, including facial nerve function (House-Brackmann score) at baseline and follow-up. In those managed surgically, operative approach and surgical outcomes were also recorded. Results Of 28 patients, 16 were male. Mean age at presentation was 46 years. The majority presented with either facial weakness or hearing loss. The internal auditory canal segment of the facial nerve was the most commonly affected (19/28, 68%). Multi-segmental lesions were found in almost half (46%) of patients. Facial weakness was most commonly associated with involvement of the labyrinthine segment (89%). Overall, 16 (57%) patients were managed surgically. Conclusion FNS may be difficult to distinguish on both clinical and imaging grounds from other cerebellopontine pathologies on the basis of audiovestibular symptoms alone. The presence of facial weakness in combination with imaging findings suggestive of FNS is highly suggestive for FNS. In patients with brainstem compression, rapid tumor growth, or House-Brackmann greater than 4, we suggest a surgical approach based on preoperative audiovestibular status, helping optimize long-term facial function and minimize morbidity. Facial nerve reanimation at the time of primary surgery is preferred.
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- 2015
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37. Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2
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Alicia M. Quesnel, Neville B. Wright, Gillian A Whitfield, Jennifer T. O’Malley, John-Paul Kilday, Robert D. Alston, Andrew T. King, Samantha J Mills, Scott R. Plotkin, Simon R Freeman, Anat Stemmer-Rachamimov, Martin G. McCabe, Scott A. Rutherford, Simon K W Lloyd, D. Gareth Evans, Ian Kamaly-Asl, Joseph B. Nadol, and Stavros Stivaros
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Adult ,Male ,medicine.medical_specialty ,Pathology ,Neurofibromatosis 2 ,Neurology ,Bevacizumab ,Cancer: head and neck ,Adolescent ,Vestibular Nerve ,CNS [Cancer] ,Internal auditory meatus ,Genetics ,medicine ,otorhinolaryngologic diseases ,Cancer Genetics ,head and neck [Cancer] ,Humans ,Clinical genetics ,Neurofibromatosis type 2 ,Child ,Diagnostics ,Genetics (clinical) ,Vestibular system ,medicine.diagnostic_test ,business.industry ,Cancer: CNS ,Infant ,Magnetic resonance imaging ,Neuroma, Acoustic ,Vestibular nerve ,medicine.disease ,Prognosis ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,Vestibular Schwannomas ,Child, Preschool ,Female ,business ,medicine.drug - Abstract
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. The superior vestibular nerve (SVN) and inferior vestibular nerve (IVN) were visualised along their course with points of tumour origin calculated as a percentage relative to the length of the nerve. RESULTS: Out of 41 patients assessed, 7 patients had no identifiable eighth cranial nerve disease. In 16 patients there was complete filling of the internal auditory meatus by a tumour mass such that its specific neural origin could not be determined. In the remaining 18 cases, 86 discrete separate foci of tumour origin on the SVN or IVN could be identified including 23 tumours on the right SVN, 26 tumours on the right IVN, 18 tumours on the left SVN and 19 tumours on the left IVN. DISCUSSION: This study, examining the origins of vestibular schwannomas in NF2, refutes their origin as being from a single site on the transition zone of the superior division of the vestibular nerve. We hypothesise a relationship between the number of tumour foci, tumour biology and aggressiveness of disease. The development of targeted drug therapies in addition to bevacizumab are therefore essential to improve prognosis and quality of life in patients with NF2 given the shortcomings of surgery and radiation treatments when dealing with the multifocality of the disease.
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- 2015
38. Subjective Outcomes of Auditory Brainstem Implantation
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Amanda McSorley, Simon K W Lloyd, Martin O'Driscoll, Jamie Motion, Deborah Mawman, Simon R. Freeman, Richard T. Ramsden, Scott A. Rutherford, and Andrew T. King
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Adult ,Male ,Auditory perception ,medicine.medical_specialty ,Adolescent ,media_common.quotation_subject ,Lipreading ,MEDLINE ,Audiology ,Auditory Brain Stem Implantation ,Young Adult ,Speech discrimination ,Surveys and Questionnaires ,Reading (process) ,Auditory Brain Stem Implants ,Humans ,Medicine ,Active listening ,Young adult ,Aged ,media_common ,Response rate (survey) ,business.industry ,Middle Aged ,Sensory Systems ,Treatment Outcome ,Otorhinolaryngology ,Auditory Perception ,Speech Perception ,Female ,Neurology (clinical) ,Noise ,business ,Auditory fatigue - Abstract
Aim To assess the long-term subjective benefits of auditory brainstem implants (ABIs) and investigate the extent to which ABI users perceive it to be a useful device. Methods Using the Manchester database, all 31 living patients registered as ABI users were identified and sent the ABI performance questionnaire. Data regarding daily duration of use, auditory fatigue, ability to differentiate between speech and environmental sounds, and subjective usefulness of the ABI in different listening conditions were collected. Patients were asked to rate the usefulness of the device in various settings on a scale of 1 (not useful) to 6 (very useful). The mean age at implantation was 33 years (13-73 yr), and the mean follow-up period was 6 years (1.5-15 yr). Results Between March 1994 and September 2009, 57 patients underwent ABI insertion. A total of 26 patients were not eligible for inclusion in the study (19 nonusers, 5 deceased, and 2 sleepers). Of the 31 eligible patients identified as ABI users, 23 returned the questionnaire, 1 was excluded as the questionnaire had been completed on his or her behalf, giving a net response rate of 71%. Mean duration of usage per day was 12.62 hours (range, 8-16 h). Seventy-one percent of the patients turned the processor off at one or more points during the day. Differentiation between speech and environment was achieved in 95%, and 70% were able to differentiate between gender and adult and pediatric voices. The ABI was perceived as most beneficial when dealing with a familiar voice in a quiet place, with a median usefulness score of 4, rising to 5 when used in conjunction with lip reading. The ABI was least useful when dealing with an unfamiliar voice in a loud place, with a mean score of 1, rising to 2 when used in conjunction with lip reading. In all environments, combining the ABI with lip reading served to increase usefulness ratings by at least 1 point. Conclusion This study demonstrates that ABI users make use of their device for at least 12 hours per day on average and obtain considerable subjective benefit in speech discrimination when using the device with familiar speakers in a quiet environment. Benefit is less significant in noise and with an unfamiliar speaker. Lip reading enhances subjective benefit by at least 1 point, and lip reading training may have a role to play in maximizing subjective benefit.
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- 2015
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39. Straight Versus Modiolar Hugging Electrodes
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Jayesh Doshi, Kevin Green, Simon R. Freeman, Iain A. Bruce, Peter Johnson, Deborah Mawman, and Simon K W Lloyd
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Adult ,Male ,medicine.medical_specialty ,Speech perception ,genetic structures ,Hearing loss ,medicine.medical_treatment ,Audiology ,Cochlear implant ,otorhinolaryngologic diseases ,Humans ,Medicine ,Postoperative Period ,Hearing Loss ,Cochlear implantation ,Aged ,Retrospective Studies ,Aged, 80 and over ,business.industry ,Hearing Tests ,Significant difference ,Retrospective cohort study ,Middle Aged ,Cochlear Implantation ,Sensory Systems ,Noise ,Cochlear Implants ,Treatment Outcome ,Otorhinolaryngology ,QUIET ,Speech Perception ,Female ,Neurology (clinical) ,medicine.symptom ,business ,psychological phenomena and processes - Abstract
OBJECTIVE: To determine differences in speech perception outcomes for patients who received a CI422 and a Contour cochlear implant. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Thirty-two adults who underwent cochlear implantation. INTERVENTION: Cochlear implantation using a CI422 or Contour device. MAIN OUTCOME MEASURE: Bamford-Kowal-Bench (BKB) speech perception scores at 3 and 9 months after activation. RESULTS: The mean BKB scores at 3 months for the CI422 device were 86.0% in quiet and 55.1% in noise. This compares with 86.0% in quiet and 62.3% in noise for the Contour device. At 9 months, the mean BKB scores were 85.9% in quiet and 67.1% in noise for the CI422 and 90.1% in quiet and 77.6% in noise for the Contour device. There was no statistically significant difference (p > 0.05) between speech perception outcomes at 3 or 9 months. CONCLUSION: This study suggests that CI422 and Contour electrode both improve speech perception outcomes postoperatively, and there does not appear to be any significant difference in outcome between the two types of devices.
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- 2015
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40. Management of Cochlear Nerve Hypoplasia and Aplasia
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Levent Sennaroglu and Simon R. Freeman
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Auditory perception ,medicine.medical_specialty ,Round window ,medicine.diagnostic_test ,business.industry ,Cochlear nerve ,Aplasia ,Audiology ,medicine.disease ,Hypoplasia ,03 medical and health sciences ,0302 clinical medicine ,Auditory brainstem response ,medicine.anatomical_structure ,medicine ,Auditory Brain Stem Implantation ,Audiometry ,030223 otorhinolaryngology ,business ,030217 neurology & neurosurgery - Abstract
Approximately 2% of congenital profound deafness cases are due to cochlear nerve (CN) deficiency. MRI is essential to confirm if the nerve is deficient, but because of limitations with resolution, especially when the internal auditory canal is narrowed, it is often unable to distinguish between hypoplasia and aplasia. A full audiometric test battery should always be performed, even if the MRI suggests CN aplasia, as there will sometimes be evidence of audition. Electrically evoked auditory brainstem response testing can be carried out transtympanically via the round window or using an intracochlear test electrode to help determine the status of the CN. If any test suggests the presence of a CN, then cochlear implantation (CI) should be considered. Children should be followed up closely with audiometric, electrophysiological and language assessments to determine the benefits. They may initially show benefit but fail to progress. CI results are variable and often result in poor outcomes with Categories of Auditory Perception scores of
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- 2018
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41. Sonographically indeterminate scrotal masses: How MRI helps in characterization
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Jonathan Richenberg, Dogra, Athina C. Tsili, Mustafa Secil, Raymond Oyen, Jane Belfield, Lorenzo E. Derchi, Alexandra Ntorkou, M. Bertolotto, Parvati Ramchandani, Subramaniyan Ramanathan, Laurence Rocher, Ahmet Tuncay Turgut, Michał Studniarek, Simon Freeman, Tsili, A. C., Bertolotto, M., Rocher, L., Turgut, A. T., Dogra, V., Secil, M., Freeman, S., Belfield, J., Studniarek, M., Ntorkou, A., Derchi, L. E., Oyen, R., Ramchandani, P., Ramanathan, S., and Richenberg, J.
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Male ,endocrine system ,medicine.medical_specialty ,testis, MRI ,Testis, US ,endocrine system diseases ,urologic and male genital diseases ,Testicular Diseases ,030218 nuclear medicine & medical imaging ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Testis ,Scrotum ,Biopsy ,Diagnosis ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Ultrasonography ,Modality-Based (US, CT, MRI, PET-CT) Imaging ,US ,medicine.diagnostic_test ,Magnetic Resonance Imaging ,Reproducibility of Results ,urogenital system ,business.industry ,Magnetic resonance imaging ,Surgical procedures ,Alternative treatment ,Patient management ,Organ sparing ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Differential ,Radiology ,Cardiology and Cardiovascular Medicine ,business ,Indeterminate ,MRI - Abstract
Magnetic resonance imaging (MRI) of the scrotum represents a useful supplemental imaging technique in the characterization of scrotal masses, particularly recommended in cases of nondiagnostic ultrasonographic findings. An accurate characterization of the benign nature of scrotal masses, including both intratesticular and paratesticular ones may improve patient management and decrease the number of unnecessary radical surgical procedures. Alternative treatment strategies, including follow-up, lesion biopsy, tumor enucleation, or organ sparing surgery may be recommended. The aim of this pictorial review is to present how MRI helps in the characterization of sonographically indeterminate scrotal masses and to emphasize the key MRI features of benign scrotal masses.
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- 2018
42. The EFSUMB Guidelines and Recommendations for the Clinical Practice of Contrast-Enhanced Ultrasound (CEUS) in Non-Hepatic Applications: Update 2017 (Long Version)
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Chris J Harvey, Nathalie Lassau, Dirk-André Clevert, Paul S. Sidhu, Hessel Wijkstra, Fabio Piscaglia, Edward Leen, David O. Cosgrove, Annamaria Deganello, H. Prosch, Adrian Saftoiu, Michele Bertolotto, Fabrizio Calliada, Christoph F. Dietrich, Simon Freeman, Odd Helge Gilja, Andrea Klauser, Ernst Michael Jung, Luca Savelli, Francesco Prada, Mirko D'Onofrio, Christian Pállson Nolsøe, Vito Cantisani, Carlos Nicolau, Christian Jenssen, Eva Bartels, Maria Franca Meloni, Hans Peter Weskott, Francesco Maria Drudi, Maija Radzina, Sidhu, P. S., Cantisani, V., Dietrich, C. F., Gilja, O. H., Saftoiu, A., Bartels, E., Bertolotto, M., Calliada, F., Clevert, D. -A., Cosgrove, D., Deganello, A., D'Onofrio, M., Drudi, F. M., Freeman, S., Harvey, C., Jenssen, C., Jung, E. -M., Klauser, A. S., Lassau, N., Meloni, M. F., Leen, E., Nicolau, C., Nolsoe, C., Piscaglia, F., Prada, F., Prosch, H., Radzina, M., Savelli, L., Weskott, H. -P., Wijkstra, H., and Sidhu PS, Cantisani V, Dietrich CF, Gilja OH, Saftoiu A, Bartels E, Bertolotto M, Calliada F, Clevert DA, Cosgrove D, Deganello A, D'Onofrio M, Drudi FM, Freeman S, Harvey C, Jenssen C, Jung EM, Klauser AS, Lassau N, Meloni MF, Leen E, Nicolau C, Nolsoe C, Piscaglia F, Prada F, Prosch H, Radzina M, Savelli L, Weskott HP, Wijkstra H
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Adult ,Male ,medicine.medical_specialty ,head/neck ,Sulfur Hexafluoride ,Contrast Media ,musculoskeletal system ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,vascular ,Humans ,Medicine ,Radiology, Nuclear Medicine and imaging ,Medical physics ,Phospholipids ,Ultrasonography ,neurology ,urinary tract ,business.industry ,Liver Neoplasms ,Ultrasound ,Head neck ,EFSUMB guidelines ,Image enhancement ,Image Enhancement ,EFSUMB guidelines , non-hepatic contrast-enhanced ultrasound (CEUS) ,non-hepatic contrast-enhanced ultrasound (CEUS) ,Clinical Practice ,Female ,Liver ,Practice Guidelines as Topic ,Phospholipid ,Liver Neoplasm ,030220 oncology & carcinogenesis ,business ,Contrast-enhanced ultrasound ,Human - Abstract
The updated version of the EFSUMB guidelines on the application of non-hepatic contrast-enhanced ultrasound (CEUS) deals with the use of microbubble ultrasound contrast outside the liver in the many established and emerging applications.Die aktualisierte Version der EFSUMB-Leitlinien für die Anwendung von nicht-hepatischem kontrastverstärktem Ultraschall (CEUS) befasst sich mit der Verwendung von Mikrobläschen Ultraschall-Kontrastmitteln außerhalb der Leber in zahlreichen etablierten und neu entstehenden Einsatzbereichen.
- Published
- 2018
43. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis
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Charlotte Hammerbeck-Ward, Michael Bulman, Simon R. Freeman, D. Gareth Evans, Scott A. Rutherford, Simon K L Lloyd, Carolyn Gokhale, Andrew J Wallace, Andrew T. King, Miriam J. Smith, and Naomi L. Bowers
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0301 basic medicine ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Neurofibromatosis 2 ,congenital, hereditary, and neonatal diseases and abnormalities ,Skin Neoplasms ,Databases, Factual ,Neurofibromatoses ,Loss of Heterozygosity ,Germline ,Functional Laterality ,Article ,Cohort Studies ,03 medical and health sciences ,Germline mutation ,0302 clinical medicine ,otorhinolaryngologic diseases ,Medicine ,Humans ,030212 general & internal medicine ,Neurofibromatosis type 2 ,Schwannomatosis ,Germ-Line Mutation ,Neurofibromin 2 ,business.industry ,Neuroma, Acoustic ,Middle Aged ,medicine.disease ,Dermatology ,030104 developmental biology ,Cohort ,Etiology ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Neurilemmoma ,Cohort study ,Transcription Factors - Abstract
Objective:To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors.Methods:We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40.7%) went on to develop a contralateral VS. We concentrated our genetic analysis on a group of 70 who initially fulfilled NF2 criteria with a unilateral vestibular schwannoma and at least 2 additional nonintradermal schwannomas.Results:Overall, 5/70 (7%) individuals with unilateral VS and at least 2 other schwannomas had a pathogenic or likely pathogenic LZTR1 mutation. Twenty of the 70 subsequently developed bilateral disease. Of the remaining 50, 5 (10%) had a germline LZTR1 mutation, equivalent to the number (n = 5) with a germline NF2 mutation.Conclusions:The most common etiology for unilateral VS and 2 additional NF2-associated tumors in this cohort was mosaic NF2. Germline LZTR1 and germline NF2 mutations were equally common in our cohort. This indicates that LZTR1 must be considered when making a diagnosis of NF2 in the presence of unilateral VS in individuals without a germline NF2 mutation.
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- 2017
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44. A case report of transverse testicular ectopia with testicular microlithiasis
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Emma Marsdin, Gemma Miles, Simon Freeman, Qiqi Lam, and P. McInerney
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Gynecology ,endocrine system ,medicine.medical_specialty ,endocrine system diseases ,urogenital system ,business.industry ,Both testes ,urologic and male genital diseases ,medicine.disease ,Inguinal canal ,Testicular malignancy ,medicine.anatomical_structure ,Increased risk ,Scrotum ,medicine ,Etiology ,Testicular ectopia ,Radiology, Nuclear Medicine and imaging ,Radiology ,business ,Testicular microlithiasis - Abstract
Transverse testicular ectopia is a rare congenital anomaly in which both testes migrate along the same inguinal canal toward the scrotum. This report describes the case of the rarest form of transverse testicular ectopia in a 23-year-old man with coexisting testicular microlithiasis in one of the two testes as diagnosed on sonography and confirmed on MRI. We are unaware of any previous published reports of this association. Although the etiology of both conditions is debatable, each is believed to be associated with an increased risk of testicular malignancy, and this poses a dilemma for the future management of this patient.
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- 2014
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45. Progress of hearing loss in neurofibromatosis type 2: implications for future management
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Jaya Nichani, Deborah Mawman, Georgios Kontorinis, Simon K. W. Lloyd, Martin O'Driscoll, Sue Huson, D. Gareth Evans, Simon R Freeman, Andrew T. King, Samantha J Mills, and Scott A. Rutherford
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Adult ,Male ,Neurofibromatosis 2 ,medicine.medical_specialty ,Time Factors ,Adolescent ,Hearing loss ,Population ,Audiology ,Young Adult ,otorhinolaryngologic diseases ,Humans ,Medicine ,Neurofibromatosis type 2 ,Child ,Hearing Loss ,education ,Aged ,Retrospective Studies ,Aged, 80 and over ,Vestibular system ,education.field_of_study ,Absolute threshold of hearing ,medicine.diagnostic_test ,business.industry ,Retrospective cohort study ,General Medicine ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Otorhinolaryngology ,Disease Progression ,Audiometry, Pure-Tone ,Female ,Pure tone audiometry ,medicine.symptom ,business - Abstract
The objective of this study was to describe changes in hearing over time in patients with neurofibromatosis type 2 (NF2) treated conservatively. A retrospective case review was conducted in a tertiary referral centre. Pure tone audiometry, speech discrimination scores, serviceable hearing (American Academy of Otolaryngology class A or B) and measurement of vestibular schwannoma (VS) size on magnetic resonance imaging were evaluated in 56 patients (89 ears) with NF2 with at least one conservatively managed VS. Over a mean follow-up period of 7 years (range 0.8-21 years) pure tone average thresholds increased gradually with a mean annual rate of 1.3 dB for the right ear (p = 0.0003) and 2 dB for the left ear (p = 0.0009). Speech discrimination scores dropped with an average annual rate of 1.3 and 0.34% in the right and left ear, respectively. Patients maintained serviceable hearing for an average of 7.6 years (range 2.7-19.3 years). The average annual VS growth was 0.4 mm without any correlation with hearing loss. There was a correlation between patients' age and pure tone threshold increase (p < 0.05 for both ears). In this selected population of patients with NF2, hearing threshold increases were very slow. In NF2 patients with indolently behaving tumours, serviceable hearing can be maintained for a significant length of time, making conservative management an attractive option.
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- 2014
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46. Incidentally detected non-palpable testicular tumours in adults at scrotal ultrasound: impact of radiological findings on management Radiologic review and recommendations of the ESUR scrotal imaging subcommittee
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Jean Michel Correas, Jane Belfield, Laurence Rocher, Simon Freeman, Vikram S. Dogra, Lorenzo E. Derchi, Jonathan Richenberg, Karim Fizazi, Michele Bertolotto, Raymond Oyen, Ahmet Tuncay Turgut, Athina C. Tsili, Parvati Ramchandani, Rocher, Laurence, Ramchandani, Parvati, Belfield, Jane, Bertolotto, Michele, Derchi, Lorenzo E., Correas, Jean Michel, Oyen, Raymond, Tsili, Athina C., Turgut, Ahmet Tuncay, Dogra, Vikram, Fizazi, Karim, Freeman, Simon, and Richenberg, Jonathan
- Subjects
Adult ,Male ,endocrine system ,medicine.medical_specialty ,Pathology ,Radiology, Nuclear Medicine and Imaging ,Testicular Cyst ,Magnetic resonance Imaging ,Leydig cell tumour ,Malignancy ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Sonoelastography ,Testicular Neoplasms ,Medical ,Nuclear Medicine and Imaging ,Scrotum ,Incidental Finding ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Testicular Neoplasm ,Societies, Medical ,Neuroradiology ,Ultrasonography ,Incidental Findings ,medicine.diagnostic_test ,business.industry ,Colour Doppler ultrasound ,Contrast-enhanced sonography ,Testicular tumours ,Europe ,Magnetic resonance imaging ,Nodule (medicine) ,Interventional radiology ,General Medicine ,medicine.disease ,Testicular tumour ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Radiology ,medicine.symptom ,Societies ,business ,Human - Abstract
The increasing detection of small testicular lesions by ultrasound (US) in adults can lead to unnecessary orchiectomies. This article describes their nature, reviews the available literature on this subject and illustrates some classical lesions. We also suggest recommendations to help characterization and management. The ESUR scrotal imaging subcommittee searched for original and review articles published before May 2015 using the Pubmed and Medline databases. Key words used were ‘testicular ultrasound’, ‘contrast-enhanced sonography’, ‘sonoelastography’, ‘magnetic resonance imaging’, ‘testis-sparing surgery’, ‘testis imaging’, ‘Leydig cell tumour’, ‘testicular cyst’. Consensus was obtained amongst the members of the subcommittee, urologist and medical oncologist. Simple cysts are frequent and benign, and do not require follow up or surgery. Incidentally discovered small solid testicular lesions detected are benign in up to 80 %, with Leydig cell tumours being the most frequent. However, the presence of microliths, macrocalcifications and hypoechoic areas surrounding the nodule are findings suggestive of malignant disease. Asymptomatic small testicular lesions found on ultrasound are mainly benign, but findings such as microliths or hypoechoic regions surrounding the nodules may indicate malignancy. Colour Doppler US remains the basic examination for characterization. The role of newer imaging modalities in characterization is evolving. • Characterization of testicular lesions is primarily based on US examination. • The role of MRI, sonoelastography, contrast-enhanced ultrasound is evolving. • Most small non-palpable testicular lesions seen on ultrasound are benign simple cysts. • Leydig cell tumours are the most frequent benign lesions. • Associated findings like microliths or hypoechoic regions may indicate malignancy.
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- 2015
47. Grayscale and color Doppler features of testicular lymphoma
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Pietro Pavlica, Paul S. Sidhu, John A. Spencer, Nicolas Grenier, Parvati Ramchandani, Massimo Valentino, Luca Abete, Michele Bertolotto, Mustafa Secil, Lorenzo E. Derchi, Calogero Cicero, Lorenzo Di Cesare Mannelli, Rossana Bussani, Simon Freeman, Vikram S. Dogra, R. Clements, Athina C. Tsili, Laurence Rocher, Bertolotto, Michele, Derchi, Lorenzo E, Secil, Mustafa, Dogra, Vikram, Sidhu, Paul S, Clements, Richard, Freeman, Simon, Grenier, Nicola, Mannelli, Lorenzo, Ramchandani, Parvati, Cicero, Calogero, Abete, Luca, Bussani, Rossana, Rocher, Laurence, Spencer, John, Tsili, Athina, Valentino, Massimo, and Pavlica, Pietro
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Adult ,Male ,medicine.medical_specialty ,Pathology ,endocrine system ,testicular neoplasm ,Lymphoma ,Color ,Color Doppler sonography ,Genitourinary ultrasound ,Non-Hodgkin testicular lymphoma ,Testicular lymphoma ,Testicular neoplasms ,Testicular sonography ,Aged ,Aged, 80 and over ,Humans ,Middle Aged ,Retrospective Studies ,Testicular Neoplasms ,Young Adult ,Ultrasonography, Doppler, Color ,Radiological and Ultrasound Technology ,Radiology, Nuclear Medicine and Imaging ,Vascular architecture ,Article ,Lesion ,Testicular vessels ,Nuclear Medicine and Imaging ,hemic and lymphatic diseases ,80 and over ,medicine ,Radiology, Nuclear Medicine and imaging ,non-Hodgkin testicular lymphoma ,Young adult ,color Doppler sonography ,Ultrasonography ,business.industry ,testicular sonography ,Doppler ,Color doppler ,testicular neoplasms ,medicine.disease ,genitourinary ultrasound ,testicular lymphoma ,Testicular Lymphoma ,Primary lymphoma ,Radiology ,medicine.symptom ,business - Abstract
Pooled data from 16 radiology centers were retrospectively analyzed to seek patients with pathologically proven testicular lymphoma and grayscale and color Doppler images available for review. Forty-three cases were found: 36 (84%) primary and 7 (16%) secondary testicular lymphoma. With unilateral primary lymphoma, involvement was unifocal (n = 10), multifocal (n = 11), or diffuse (n = 11). Synchronous bilateral involvement occurred in 6 patients. Color Doppler sonography showed normal testicular vessels within the tumor in 31 of 43 lymphomas (72%). Testicular lymphoma infiltrates through the tubules, preserving the normal vascular architecture of the testis. Depiction of normal testicular vessels crossing the lesion is a useful adjunctive diagnostic criterion.
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- 2015
48. Testicular microlithiasis imaging and follow-up: guidelines of the ESUR scrotal imaging subcommittee
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Ahmet Tuncay Turgut, Vikram S. Dogra, Athina C. Tsili, Jonathan Richenberg, Jane Belfield, Laurence Rocher, Michał Studniarek, Simon Freeman, Lorenzo E. Derchi, Parvati Ramchandani, Michele Bertolotto, Faye Cuthbert, Richenberg, Jonathan, Belfield, Jane, Ramchandani, Parvati, Rocher, Laurence, Freeman, Simon, Tsili, Athina C, Cuthbert, Faye, Studniarek, Michal, Bertolotto, Michele, Turgut, Ahmet Tuncay, Dogra, Vikram, and Derchi, Lorenzo E.
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Male ,Biopsy ,Germ cell tumour ,Testicular microlithiasis ,Testis microcalcification ,Ultrasound ,Adolescent ,Adult ,Age of Onset ,Aged ,Calculi ,Child ,Child, Preschool ,Diagnosis, Differential ,Fibrous Dysplasia, Polyostotic ,Follow-Up Studies ,Humans ,Infant ,Infant, Newborn ,Infertility, Male ,Klinefelter Syndrome ,Middle Aged ,Pedigree ,Risk Factors ,Scrotum ,Testicular Diseases ,Testicular Neoplasms ,Ultrasonography ,Young Adult ,Radiology, Nuclear Medicine and Imaging ,Nuclear Medicine and Imaging ,Diagnosis ,Young adult ,Family history ,Neuroradiology ,medicine.diagnostic_test ,Interventional radiology ,General Medicine ,Radiology ,Human ,medicine.medical_specialty ,Polyostotic ,MEDLINE ,Follow-Up Studie ,medicine ,Radiology, Nuclear Medicine and imaging ,Testicular Neoplasm ,Preschool ,Gynecology ,Testicular atrophy ,business.industry ,Risk Factor ,General surgery ,medicine.disease ,Newborn ,Testicular Disease ,Infertility ,Differential ,Age of onset ,business ,Fibrous Dysplasia - Abstract
The subcommittee on scrotal imaging, appointed by the board of the European Society of Urogenital Radiology (ESUR), have produced guidelines on imaging and follow-up in testicular microlithiasis (TML). The authors and a superintendent university librarian independently performed a computer-assisted literature search of medical databases: MEDLINE and EMBASE. A further parallel literature search was made for the genetic conditions Klinefelter’s syndrome and McCune-Albright syndrome. Proposed guidelines are: follow-up is not advised in patients with isolated TML in the absence of risk factors (see Key Points below); annual ultrasound (US) is advised for patients with risk factors, up to the age of 55; if TML is found with a testicular mass, urgent referral to a specialist centre is advised. Consensus opinion of the scrotal subcommittee of the ESUR is that the presence of TML alone in the absence of other risk factors is not an indication for regular scrotal US, further US screening or biopsy. US is recommended in the follow-up of patients at risk, where risk factors other than microlithiasis are present. Risk factors are discussed and the literature and recommended guidelines are presented in this article. • Follow up advised only in patients with TML and additional risk factors. • Annual US advised for patients with risk factors up to age 55. • If TML is found with testicular mass, urgent specialist referral advised. • Risk factors – personal/ family history of GCT, maldescent, orchidopexy, testicular atrophy.
- Published
- 2014
49. Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient
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Charlotte Hammerbeck-Ward, Simon K W Lloyd, Omar N. Pathmanaban, Allyson Parry, Mark Kellett, Roger Laitt, Rupert Obholzer, Shazia K. Afridi, Patrick R. Axon, Dorothy Halliday, D. Gareth Evans, Andrew T. King, Stavros Stivaros, Sara Erridge, Martin G. McCabe, Scott A. Rutherford, Owen M. Thomas, and Simon R. Freeman
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Neurofibromatosis 2 ,Manchester criteria ,Adolescent ,medicine.medical_treatment ,Acoustic neuroma ,Schwannoma ,Radiosurgery ,Nerve Sheath Neoplasms ,Malignant transformation ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,MPNST ,Databases, Genetic ,otorhinolaryngologic diseases ,medicine ,Humans ,Prospective Studies ,Neurofibromatosis type 2 ,Child ,Aged ,Vestibular system ,Aged, 80 and over ,Malignant peripheral nerve sheath tumours ,Manchester Cancer Research Centre ,business.industry ,ResearchInstitutes_Networks_Beacons/mcrc ,Infant ,Neuroma, Acoustic ,Middle Aged ,Cerebellopontine angle ,medicine.disease ,Neuroma ,Cell Transformation, Neoplastic ,Neurofibromatosis Type 2 ,030220 oncology & carcinogenesis ,Child, Preschool ,Surgery ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Background The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant. Objective To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. Methods The prospective database consists of 1253 patients with NF2. One thousand and nine are known to be alive at last follow-up. The presence and laterality/pathology of vestibular schwannoma at diagnosis and last follow-up was sought. Results There were no cases of spontaneous MPNST with 2114 proven (n = 1150) and presumed benign (n = 964) vestibular schwannomas found. Two patients had developed MPNST (1 presumed) after having previously undergone stereotactic radiosurgery for a vestibular schwannoma. Conclusion In this series, and from the literature, malignant transformation of a vestibular schwannoma was not a feature of NF2 in the unirradiated patient. NF2 patients should not be told that they have an increased risk of malignant change in a vestibular schwannoma unless they undergo radiation treatment. However, very much larger datasets are required before it can be determined whether there is any association between NF2 and MPNST in the unirradiated patient.
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- 2016
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50. The Surgical Management of Temporal Bone and Lateral Skull Base Defects
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Andrew T. King, Hannah J. D. North, Simon K W Lloyd, Jawad Yousaf, Chorlatte L. Hammerbeck-Ward, Scott A. Rutherford, and Simon R. Freeman
- Subjects
Skull ,medicine.anatomical_structure ,business.industry ,Temporal bone ,medicine ,Neurology (clinical) ,Anatomy ,Base (exponentiation) ,business - Published
- 2016
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