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1.
Eur Radiol ; 2024 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-38326448

RESUMEN

OBJECTIVES: To evaluate the diagnostic performance and reliability of MRI descriptors used for the detection of Ménière's disease (MD) on delayed post-gadolinium MRI. To determine which combination of descriptors should be optimally applied and whether analysis of the vestibular aqueduct (VA) contributes to the diagnosis. MATERIALS AND METHODS: This retrospective single centre case-control study evaluated delayed post-gadolinium MRI of patients with Ménièriform symptoms examined consecutively between Dec 2017 and March 2023. Two observers evaluated 17 MRI descriptors of MD and quantified perilymphatic enhancement (PLE) in the cochlea. Definite MD ears according to the 2015 Barany Society criteria were compared to control ears. Cohen's kappa and diagnostic odds ratio (DORs) were calculated for each descriptor. Forward stepwise logistic regression determined which combination of MRI descriptors would best predict MD ears, and the area under the receiver operating characteristic curve for this model was measured. RESULTS: A total of 227 patients (mean age 48.3 ± 14.6, 99 men) with 96 definite MD and 78 control ears were evaluated. The presence of saccular abnormality (absent, as large as or confluent with the utricle) performed best with a DOR of 292.6 (95% confidence interval (CI), 38.305-2235.058). All VA descriptors demonstrated excellent reliability and with DORs of 7.761 (95% CI, 3.517-17.125) to 18.1 (95% CI, 8.445-39.170). Combining these saccular abnormalities with asymmetric cochlear PLE and an incompletely visualised VA correctly classified 90.2% of cases (sensitivity 84.4%, specificity 97.4%, AUC 0.938). CONCLUSION: Either absent, enlarged or confluent saccules are the best predictors of MD. Incomplete visualisation of the VA adds value to the diagnosis. CLINICAL RELEVANCE STATEMENT: A number of different MRI descriptors have been proposed for the diagnosis of Ménière's disease, but by establishing the optimally performing MRI features and highlighting new useful descriptors, there is an opportunity to improve the diagnostic performance of Ménière's disease imaging. KEY POINTS: • A comprehensive range of existing and novel vestibular aqueduct delayed post-gadolinium MRI descriptors were compared for their diagnostic performance in Ménière's disease. • Saccular abnormality (absent, confluent with or larger than the utricle) is a reliable descriptor and is the optimal individual MRI predictor of Ménière's disease. • The presence of this saccule descriptor or asymmetric perilymphatic enhancement and incomplete vestibular aqueduct visualisation will optimise the MRI diagnosis of Ménière's disease.

2.
Development ; 147(23)2020 12 14.
Artículo en Inglés | MEDLINE | ID: mdl-33093151

RESUMEN

Defects in ear canal development can cause severe hearing loss as sound waves fail to reach the middle ear. Here, we reveal new mechanisms that control human canal development and highlight for the first time the complex system of canal closure and reopening. These processes can be perturbed in mutant mice and in explant culture, mimicking the defects associated with canal atresia. The more superficial part of the canal forms from an open primary canal that closes and then reopens. In contrast, the deeper part of the canal forms from an extending solid meatal plate that opens later. Closure and fusion of the primary canal was linked to loss of periderm, with failure in periderm formation in Grhl3 mutant mice associated with premature closure of the canal. Conversely, inhibition of cell death in the periderm resulted in an arrest of closure. Once closed, re-opening of the canal occurred in a wave, triggered by terminal differentiation of the epithelium. Understanding these complex processes involved in canal development sheds light on the underlying causes of canal atresia.


Asunto(s)
Proteínas de Unión al ADN/genética , Conducto Auditivo Externo/crecimiento & desarrollo , Encefalitis/genética , Pérdida Auditiva/genética , Factores de Transcripción/genética , Animales , Diferenciación Celular/genética , Modelos Animales de Enfermedad , Conducto Auditivo Externo/anomalías , Conducto Auditivo Externo/metabolismo , Conducto Auditivo Externo/patología , Encefalitis/patología , Células Epiteliales/metabolismo , Epitelio/crecimiento & desarrollo , Pérdida Auditiva/patología , Humanos , Ratones , Proteínas Mutantes/genética
3.
Eur Radiol ; 33(10): 7113-7135, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37171493

RESUMEN

OBJECTIVES: Delayed post-gadolinium magnetic resonance imaging (MRI) detects changes of endolymphatic hydrops (EH) within the inner ear in Meniere's disease (MD). A systematic review with meta-analysis was conducted to summarise the diagnostic performance of MRI descriptors across the range of MD clinical classifications. MATERIALS AND METHODS: Case-controlled studies documenting the diagnostic performance of MRI descriptors in distinguishing MD ears from asymptomatic ears or ears with other audio-vestibular conditions were identified (MEDLINE, EMBASE, Web of Science, Scopus databases: updated 17/2/2022). Methodological quality was evaluated with Quality Assessment of Diagnostic Accuracy Studies version 2. Results were pooled using a bivariate random-effects model for evaluation of sensitivity, specificity and diagnostic odds ratio (DOR). Meta-regression evaluated sources of heterogeneity, and subgroup analysis for individual clinical classifications was performed. RESULTS: The meta-analysis included 66 unique studies and 3073 ears with MD (mean age 40.2-67.2 years), evaluating 11 MRI descriptors. The combination of increased perilymphatic enhancement (PLE) and EH (3 studies, 122 MD ears) achieved the highest sensitivity (87% (95% CI: 79.92%)) whilst maintaining high specificity (91% (95% CI: 85.95%)). The diagnostic performance of "high grade cochlear EH" and "any EH" descriptors did not significantly differ between monosymptomatic cochlear MD and the latest reference standard for definite MD (p = 0.3; p = 0.09). Potential sources of bias were case-controlled design, unblinded observers and variable reference standard, whilst differing MRI techniques introduced heterogeneity. CONCLUSIONS: The combination of increased PLE and EH optimised sensitivity and specificity for MD, whilst some MRI descriptors also performed well in diagnosing monosymptomatic cochlear MD. KEY POINTS: • A meta-analysis of delayed post-gadolinium magnetic resonance imaging (MRI) for the diagnosis of Meniere's disease is reported for the first time and comprised 66 studies (3073 ears). • Increased enhancement of the perilymphatic space of the inner ear is shown to be a key MRI feature for the diagnosis of Meniere's disease. • MRI diagnosis of Meniere's disease can be usefully applied across a range of clinical classifications including patients with cochlear symptoms alone.


Asunto(s)
Oído Interno , Hidropesía Endolinfática , Enfermedad de Meniere , Humanos , Adulto , Persona de Mediana Edad , Anciano , Enfermedad de Meniere/diagnóstico por imagen , Gadolinio/farmacología , Hidropesía Endolinfática/diagnóstico , Oído Interno/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos
4.
Neuroradiology ; 64(6): 1081-1100, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35460348

RESUMEN

The use of standardized imaging protocols is paramount in order to facilitate comparable, reproducible images and, consequently, to optimize patient care. Standardized MR protocols are lacking when studying head and neck pathologies in the pediatric population. We propose an international, multicenter consensus paper focused on providing the best combination of acquisition time/technical requirements and image quality. Distinct protocols for different regions of the head and neck and, in some cases, for specific pathologies or clinical indications are recommended. This white paper is endorsed by several international scientific societies and it is the result of discussion, in consensus, among experts in pediatric head and neck imaging.


Asunto(s)
Neoplasias de Cabeza y Cuello , Cabeza , Niño , Consenso , Cabeza/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , Cuello/diagnóstico por imagen
5.
Ear Hear ; 43(6): 1678-1686, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35583512

RESUMEN

OBJECTIVES: The appearance of low-frequency air-bone gaps (LFABGs) in Meniere's disease (MD) is a recognized but relatively unexplored phenomenon. Two theories have been proposed to explain their etiology: increased perilymphatic pressure resulting in either reduced stapedial mobility or dampened transmission of acoustic energy, and direct contact between the dilated saccule and the stapes footplate. The aim of this study was to evaluate these two hypotheses by comparing delayed postgadolinium magnetic resonance imaging (MRI) features of two groups of patients with unilateral definite MD, those with and without LFABGs. DESIGN: This retrospective case-control study was conducted at a tertiary otolaryngology unit in the United Kingdom. The study included 35 patients who satisfied the 2015 Barany criteria for unilateral definite MD. The cohort was divided into two groups, those with LFABGs (LFABG+ group) and those without (LFABG- group), according to the pure-tone audiometry performed within 6 months of MRI. Alternative potential causes for the LFABGs were excluded on the basis of otologic history, otoscopy, tympanometry, and/or imaging. Using a 4-hr delayed postgadolinium 3-dimensional fluid-attenuated inversion recovery sequence, two observers evaluated the severity of cochlear and vestibular endolymphatic hydrops (EH) and the presence of vestibular endolymphatic space contacting the oval window (VESCO). The air and bone conduction thresholds, ABGs and MRI features were compared between the LFABG+ and LFABG- groups. Where any of the variables were found to be significantly associated with the presence of ABGs, further analysis was performed to determine whether or not they were independent predictors. Continuous variables were compared using the independent t test if normally distributed, and the Mann-Whitney U test or Kruskall-Wallis test if not normally distributed. Categorical variables were compared with Pearson's Chi-squared test or Fishers/Fisher-Freeman-Halton exact tests. RESULTS: There were 10 patients in the LFABG+ group (28.6%) and 25 patients in the LFABG- group (71.4%). The mean ABGs in the symptomatic ear at 500 Hz, 1 kHz, and 2 kHz were 15.1 dB ± 6.4, 10.5 dB ± 9.0, and 4.0 dB ± 7.7, respectively, in the LFABG+ group and 2.0 ± 5.8, 2.4 ± 4.4, and -0.8 ± 4.7 dB in the LFABG- group. The differences in ABGs between the two groups were statistically significant at all three test frequencies ( p < 0.001 at 500 Hz, p = 0.007 at 1 kHz, and p = 0.041 at 2 kHz). The presence of ABGs was significantly associated with both the grade of vestibular EH ( p = 0.049) and VESCO ( p = 0.009). Further analysis showed a statistically significant association between the grade of vestibular EH and VESCO ( p = 0.007), and only VESCO was an independent variable associated with the presence of LFABGs ( p = 0.045). CONCLUSIONS: The study findings add to the existing body of evidence that LFABGs are a true audiological finding in MD and allow us to propose a mechanism. Analysis of delayed gadolinium-enhanced MRI suggests that direct contact between the distended saccule and the inner surface of the stapes footplate is the more likely underlying pathophysiological mechanism for this audiometric phenomenon.


Asunto(s)
Hidropesía Endolinfática , Enfermedad de Meniere , Vestíbulo del Laberinto , Humanos , Gadolinio , Estudios Retrospectivos , Estudios de Casos y Controles , Hidropesía Endolinfática/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Audiometría de Tonos Puros
6.
Acta Neurochir (Wien) ; 164(7): 1939-1948, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35612666

RESUMEN

BACKGROUND: The vidian canal (VC) is normally a reliable anatomical landmark for locating the petrous internal carotid artery (pICA). This study determined the influence of petroclival chondrosarcoma on the relationship between the VC and pICA. METHODS: Nine patients (3 males, 6 females; median age 49) with petroclival chondrosarcoma, and depiction of the pICA on contrast-enhanced CT, were retrospectively studied. CT-based measurements were performed by two observers, both in the presence of the petroclival chondrosarcoma (case) and on the contralateral control side. The antero-posterior (AP) and craniocaudal (CC) measurements from the posterior VC to the pICA, whether the pICA was in the trajectory of the VC, and the coronal relationship of the pICA anterior genu with the VC were recorded. RESULTS: Chondrosarcoma usually displaced the pICA anteriorly (8/9 cases) and superiorly (6/9 cases) relative to the normal side with mean AP and CC measurements of 3.9 mm v 7.2 mm (p = 0.054) and 4.4 mm v 1.4 mm (p = 0.061). The VC trajectory less frequently intersected the pICA cross-section in the presence of chondrosarcoma however it was in the line of the eroded dorsal VC in one case. The anterior genu of the pICA was displaced more laterally by chondrosarcoma but usually remained superior to the VC. CONCLUSION: Petroclival chondrosarcoma variably influences the anatomical relationship between the VC and the pICA, hence requiring an individualised approach. The pICA is usually anterosuperiorly displaced, and the anterior genu remains superior to the VC, however it may be located in the line of the canal.


Asunto(s)
Arteria Carótida Interna , Condrosarcoma , Arteria Carótida Interna/diagnóstico por imagen , Estudios de Casos y Controles , Condrosarcoma/diagnóstico por imagen , Condrosarcoma/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Hueso Petroso/diagnóstico por imagen , Pica , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
7.
Acta Neurochir (Wien) ; 164(9): 2351-2355, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35759148

RESUMEN

We describe the first ever-reported occurrence of a post-operative tension pneumosyrinx occurring after a resection of an intradural intramedullary spinal tumour in a 40-year-old patient. Post-operatively, he developed sudden onset paraplegia and imaging revealed a tension pneumosyrinx which was subsequently surgically decompressed. He made a gradual neurological recovery. This is an extremely rare complication with potentially long-lasting deleterious effects on patients' neurological status if not recognized. We aim to bring this pathology to the attention of our neurosurgical colleagues and share our surgical approach and management to assist those who may encounter this pathology in the future.


Asunto(s)
Procedimientos Neuroquirúrgicos , Neoplasias de la Médula Espinal , Adulto , Humanos , Enfermedad Iatrogénica , Masculino , Procedimientos Neuroquirúrgicos/efectos adversos , Paraplejía/etiología , Neoplasias de la Médula Espinal/cirugía
8.
Clin Endocrinol (Oxf) ; 95(2): 315-322, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33598922

RESUMEN

Head and neck paragangliomas (HNPGLs) are rare tumours with ~ 30% genetic mutations, mainly in succinate dehydrogenase (SDHx) genes. The utility of FDG PET-CT in HNPGLs is questioned by recent developments in novel radiotracers. We therefore performed a retrospective study in a single tertiary referral centre to address the utility of FDG PET/CT in HNPGLs. METHODS: Clinical data on genetic testing and follow-up were collected for patients who had FDG PET-CT scans from 2004 to 2016. Receiver operator characteristic (ROC) analysis was used to compare standardized uptake values (SUVs), metabolic tumour volume (MTV) and total lesion glycolysis (TLG) between lesions in patients who had a clinically related event: event (+) and those who did not: event (-). Similarly, we compared PET parameters between SDHx+ patients and a control group with low probability of mutation. RESULTS: Of 153 HNPGL patients, 73 (29 SDHx+) with 93 FDG-positive lesions were identified: 53.8% of lesions were assessed in a pre-therapeutic setting. In comparison with a reference extracted from clinicoradiological database, FDG PET-CT showed good performance to detect HNPGLs (96.6% accuracy). In this study population, 16 disease progression, 1 recurrence and 1 death were recorded and event (+) patients had lesions with higher SUVmax (p = .03 and p = .02, respectively). Conversely, there were no differences in PET parameters between lesions in SDHx+ patients and controls with low probability of SDHx+ mutations. CONCLUSIONS: FDG PET-CT has clinical utility in HNPGLs, mostly before local treatment. There were no significant differences in PET parameters between SDHx patients and a sporadic HNPGL population. However, regardless of SDHx mutation status, a high SUVmax was associated with more clinical events and prompts to a closer follow-up.


Asunto(s)
Paraganglioma , Tomografía Computarizada por Tomografía de Emisión de Positrones , Fluorodesoxiglucosa F18 , Humanos , Paraganglioma/diagnóstico por imagen , Paraganglioma/genética , Tomografía de Emisión de Positrones , Estudios Retrospectivos
9.
Neuroradiology ; 63(3): 431-437, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33210164

RESUMEN

PURPOSE: The association of internal auditory canal (IAC) fundal diverticula with otospongiosis (OS) and their clinical significance remain unclear. We explored whether isolated IAC diverticula were morphologically different from those with additional CT features of OS, and whether IAC diverticula morphology influenced patterns of hearing loss. METHODS: Consecutive temporal bone CT studies with (n = 978) and without (n = 306) features of OS were retrospectively assessed. Two independent observers evaluated the presence of IAC diverticula morphological features (depth, neck:depth ratio, definition of contour and angulation of shape), and these were correlated with the presence of fenestral and pericochlear OS. Audiometric profiles were analysed for the isolated IAC diverticula and those with fenestral OS alone. Continuous data was compared using Wilcoxon rank sum tests and categorical data with chi-squared and Fisher's exact tests. RESULTS: Ninety-five isolated IAC diverticula were demonstrated in 54/978 patients (5.5%) without CT evidence of OS (31M, 23F, mean age 46), and 119 IAC diverticula were demonstrated in 71/306 patients (23%) with CT evidence of OS (23M, 48F, mean age 55). Reduced neck:depth ratio, ill definition and angulation were all significantly associated with the presence of pericochlear OS (p < 0.001), whilst only ill definition was associated with the presence of fenestral OS alone (p < 0.05). No morphological feature was associated with conductive hearing loss in isolated diverticula or with sensorineural hearing loss in diverticula with fenestral OS alone. CONCLUSION: IAC diverticula associated with pericochlear OS demonstrate different morphological features from isolated IAC diverticula. There are no clear audiometric implications of these morphological features.


Asunto(s)
Divertículo , Pérdida Auditiva Sensorineural , Pérdida Auditiva , Otosclerosis , Divertículo/diagnóstico por imagen , Pérdida Auditiva/diagnóstico por imagen , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
10.
Ear Hear ; 42(5): 1263-1275, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33813521

RESUMEN

OBJECTIVES: The primary objective of this study was to establish the reproducibility of cochlear microphonic (CM) recordings obtained from a cochlear implant (CI) electrode contact during and immediately after insertion. This was achieved by evaluating the insertion angle and calculating the position of the apical electrode contact during insertion, using postoperative cone beam computed tomography (CBCT). The secondary objective was to create individualized patient maps of electrode contacts located within acoustically sensitive regions by correlating the CM amplitude to the electrode position determined using CBCT. METHODS: CMs were recorded from a CI electrode contact during and immediately after insertion in 12 patients (n = 14 ears). Intraoperative recordings were made for a 0.5 kHz tone burst stimulus and were recorded from the apical electrode contact. Postinsertion recordings were made from the odd-numbered electrode contacts (1-15) along the array, using a range of stimulus frequencies (from 0.125 to 2 kHz). The time point at which each electrode contact passed through the round window was noted throughout the insertion, and the CM amplitude at this point was correlated to postoperative CBCT. This correlation was then used to estimate the CM amplitude at particular points within the cochlea, which was in turn compared with the amplitudes recorded from each electrode postoperatively to assess the reproducibility of the recordings. RESULTS: Significant correlation was shown between intraoperative insertion and postinsertion angles at two amplitude events (maximum amplitude: 29° mean absolute error, r = 0.77, p = 0.006; 10% of maximum amplitude: 52° mean absolute error, r = 0.85, p = 0.002). CONCLUSION: We have developed a novel method to demonstrate the reproducibility of the CM responses recorded from a CI electrode during insertion. By correlating the CM amplitude with the postoperative CBCT, we have also been able to create individualized maps of CM responses, categorizing the cochlea into acoustically responsive and unresponsive regions. If the electrode contacts within the acoustically sensitive regions are shown to be associated with improved loudness discrimination, it could have implications for optimal electrode mapping and placement.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Audiometría de Respuesta Evocada , Cóclea/diagnóstico por imagen , Cóclea/cirugía , Tomografía Computarizada de Haz Cónico , Humanos , Reproducibilidad de los Resultados
11.
Neuromodulation ; 24(8): 1422-1428, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32383279

RESUMEN

OBJECTIVES: A recent approach to treatment of cluster headaches (CH) employs a microstimulator device for on-demand neuromodulation of the sphenopalatine ganglion (SPG) during an acute CH attack. A precise anatomical localization of the SPG within the pterygopalatine fossa (PPF) is optimal in order to position the SPG electrode array. This study aims to investigate a novel approach for SPG localization using computed tomography angiographic studies (CTA). MATERIALS AND METHODS: Two independent observers identified the location of the SPG on 54 computed tomography angiographic studies (CTA) and measured its position relative to the vidian canal (VC). The qualitative confidence of identification, morphology, position within the PPF and its relation to vascular structures were also recorded. RESULTS: The SPG was detectable in 88% of cases with a variable position. The most frequent positions were superior (56%) and lateral (99%) relative to the VC with a mean (±SD) craniocaudal distance of 0.34 mm (±1.38) and a mean mediolateral distance of 3.04 mm (±1.2). However, in a considerable proportion of cases, the SPG was identified inferiorly to the VC (33%). Interobserver and intraobserver agreement for SPG location were moderate and strong respectively. CONCLUSIONS: Since localization of SPG on CTAs is feasible and reproducible, it has future clinical potential to aid placement, optimal positioning and individualized programming of the electrode array.


Asunto(s)
Cefalalgia Histamínica , Terapia por Estimulación Eléctrica , Ganglios Parasimpáticos , Cefalalgia Histamínica/terapia , Angiografía por Tomografía Computarizada , Ganglios Parasimpáticos/diagnóstico por imagen , Humanos , Fosa Pterigopalatina/diagnóstico por imagen
12.
Br J Neurosurg ; 34(5): 537-542, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31079493

RESUMEN

We describe the case of a 65-year-old lady who presented with mutism and a right hemiparesis. Imaging showed a severe spontaneous tension pneumocephalus. The cause was diagnosed as Ecchordosis physaliphora (EP). EP is a rare cystic congenital hamartomatous benign notochordal tumor (BNCT) arising from an ectopic notochordal remnant. To the authors' knowledge, this is the first case of EP to be described in the literature which presented with a life-threatening but treatable condition of severe tension pneumocephalus.


Asunto(s)
Enfermedades del Sistema Nervioso Central , Hamartoma , Neumocéfalo , Anciano , Femenino , Humanos , Notocorda , Neumocéfalo/diagnóstico por imagen , Neumocéfalo/etiología , Neumocéfalo/cirugía
14.
Am J Med Genet A ; 173(6): 1562-1565, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28429859

RESUMEN

There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important to ascertain if there is a predisposition to vascular abnormalities in NF2. In our unit NF2 patients undergo annual MRI brain and internal auditory meatus imaging. We noted incidental intracranial aneurysms in some patients and sought to determine the prevalence of intracranial aneurysms in our cohort of NF2 patients. We conducted a retrospective audit of the MRI images of 104 NF2 patients from 2014 to 2016. Axial T2 brain MRI images were assessed for vascular abnormalities by two neuroradiologists blinded to patient's clinical details. Intracranial aneurysms were detected in four patients and an aneurysm clip related to previous surgery was noted in one additional patient. Using standard MRI imaging sequences alone we provide evidence of intracranial aneurysms in 4.4% of our cohort. This compares with an estimated overall prevalence of 3% in the general population. We discuss these findings as well as other evidence for a vasculopathy associated with NF2.


Asunto(s)
Aneurisma Intracraneal/fisiopatología , Neurofibromatosis 2/fisiopatología , Neurofibromina 2/genética , Enfermedades Vasculares/fisiopatología , Adulto , Bevacizumab/efectos adversos , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Femenino , Humanos , Aneurisma Intracraneal/inducido químicamente , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/genética , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación , Neurofibromatosis 2/complicaciones , Neurofibromatosis 2/diagnóstico por imagen , Neurofibromatosis 2/genética , Enfermedades Vasculares/inducido químicamente , Enfermedades Vasculares/diagnóstico por imagen , Enfermedades Vasculares/genética
15.
J Neurooncol ; 133(3): 609-614, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28593402

RESUMEN

Type 1 Neurofibromatosis (NF1) is a common autosomal dominant condition, with a major impact on the nervous system, eye, bone, and skin, and a predisposition to malignancy. At present it is not possible to predict clinically or on imaging, whether a brain tumour will remain indolent or undergo high-grade change. There are no consensus guidelines on the follow-up of non-optic pathway glioma (non-OPG) tumours in NF1. One hundred patients from the National NF1 Service with generalised NF1 and a diagnosis of non-OPG glioma were followed up for a median time of 63 months after glioma detection. Forty-two patients underwent surgical intervention. Ninety-one percent (38) of those requiring surgery did so within 5 years of diagnosis of glioma. Serial neuroimaging was undertaken in 88 patients. In 66 (75%), the lesion on the scan was stable or had improved at follow-up. High-grade lesions were present in five patients and were strongly associated with tumours in the thalamus (p = 0.001). Five patients died during follow-up. The diagnosis of high-grade glioma had a HR of 99.7 (95% CI 11.1-898.9, p < 000.1) on multivariate Cox regression to evaluate predictive factors related to death. In our cohort of 100 patients with NF1, we have shown that tumours in the thalamus are more likely to be associated with radiological progression, high-grade tumours, and surgical intervention. As a result of this finding, heightened surveillance with more frequent imaging should be considered in thalamic involvement. We have also demonstrated that over 40% of patients underwent surgery, and did so within 5 years of tumour diagnosis. Serial imaging should be undertaken for at the very least, 5 years from tumour detection.


Asunto(s)
Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/diagnóstico , Glioma/complicaciones , Glioma/diagnóstico , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Adolescente , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/cirugía , Neoplasias Encefálicas/fisiopatología , Neoplasias Encefálicas/terapia , Niño , Preescolar , Femenino , Estudios de Seguimiento , Glioma/fisiopatología , Glioma/terapia , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Neurofibromatosis 1/fisiopatología , Neurofibromatosis 1/terapia , Pronóstico , Modelos de Riesgos Proporcionales , Adulto Joven
16.
Eur Radiol ; 27(3): 1195-1201, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27364152

RESUMEN

OBJECTIVE: To assess the diagnostic efficacy and therapeutic impact of CT in evaluating patients with clinically suspected otosclerosis. METHODS: CT scans performed over a 5-year period for clinically suspected otosclerosis were retrospectively reviewed. CT diagnoses were correlated with subsequent surgical management. For otosclerosis positive cases, clinically significant extensions of otosclerosis were correlated with audiometry and the diagnosis was correlated with surgical findings. RESULTS: Of 259 CT studies, 46 % of patients were positive, 49 % negative and 5 % equivocal for otosclerosis. A relevant alternative CT diagnosis was evident in 33 % of the negative studies. One targeted surgery was performed for every four CT studies. CT outcome influenced the decision to perform stapedectomy in 41 % CT-positive versus 4 % CT-negative patients. CT-positive ears for otosclerosis could not be predicted from baseline clinical or audiometric criteria. Those with endosteal extension demonstrated lower bone conduction thresholds presurgically. The positive predictive value of CT diagnosis of otosclerosis was 100 %. CONCLUSIONS: CT demonstrated a high rate of clinically relevant diagnoses in both CT-positive and -negative for otosclerosis patients, and this frequently influenced surgical management. CT also added value by demonstrating relevant extensions of the otosclerotic foci, some of which were predictive of audiometric parameters. KEY POINTS: • CT demonstrates a high rate of alternative diagnoses in suspected otosclerosis, 1:3. • CT results in a high rate of targeted surgery in suspected otosclerosis, 1:4. • CT prevents exploratory surgery in suspected otosclerosis. • Endosteal extension of otosclerosis is predictive of lower bone conduction tresholds presurgically. • The PPV of CT diagnosis of otosclerosis was 100 %.


Asunto(s)
Otosclerosis/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Audiometría , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Otosclerosis/cirugía , Reproducibilidad de los Resultados , Estudios Retrospectivos , Estribo/diagnóstico por imagen , Cirugía del Estribo , Adulto Joven
18.
Pract Neurol ; 16(6): 493-495, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27407176

RESUMEN

Central pontine myelinolysis is characterised by focal osmotic demyelination within the pons. Its clinical presentation varies, but may include acute paralysis, dysarthria and dysphagia. The cause is traditionally associated with overzealous correction of hyponatraemia in patients who are malnourished, alcoholic or chronically ill. However, it may develop in the context of normal serum sodium, since rapid gradient shifts in brainstem osmolalities can occur in other ways. We present an unusual example of central pontine myelinolysis caused by osmotic shifts secondary to hyperglycaemia in a person with type 1 diabetes mellitus and with consistently normal serum sodium concentrations.


Asunto(s)
Hiperglucemia/complicaciones , Mielinólisis Pontino Central/etiología , Adulto , Disartria , Humanos , Imagen por Resonancia Magnética , Masculino , Puente , Adulto Joven
19.
Pediatr Int ; 57(1): 174-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25711260

RESUMEN

Sickle cell disease (SCD) is associated with sensorineural hearing loss (SNHL). Although the hearing loss is usually mild, some develop severe-to-profound hearing loss, in whom cochlear implants (CI) may be an option. We present the cases of two children with SCD who developed bilateral severe-to-profound SNHL and underwent cochlear implantation. One patient became profoundly deaf after an acute episode of dizziness. Imaging indicated bilateral cochlear ossification, making subsequent cochlear implant surgery challenging. The second patient developed bilateral severe-to-profound SNHL following acute vaso-occlusive crises. She went on to have uncomplicated cochlear implant surgery. These cases illustrate the variable manner in which children with SCD may develop SNHL, and the difficulties associated with managing such cases. We recommend that children with SCD should undergo regular audiological assessment. Furthermore, clinicians should be aware of the risk of cochlear fibrosis and ossification and ensure prompt assessment following an acute vaso-occlusive crisis or unexplained vestibulocochlear event.


Asunto(s)
Anemia de Células Falciformes/complicaciones , Implantación Coclear/métodos , Pérdida Auditiva Sensorineural/cirugía , Niño , Femenino , Pérdida Auditiva Sensorineural/etiología , Humanos , Recién Nacido , Masculino
20.
Br J Neurosurg ; 29(5): 685-92, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26174632

RESUMEN

INTRODUCTION: High complication rates have been cited following olfactory groove meningioma (OGM) resection but data are lacking on attendant risk factors. We aimed to review the complications following OGM resection and identify prognostic factors. METHODS: A retrospective review was performed on 34 consecutive patients who underwent primary OGM resection at a single London institution between March 2008 and February 2013. Collected data included patient comorbidities, pre-operative corticosteroid use, tumour characteristics, imaging features, operative details, extent of resection, histology, use of elective post-operative ventilation, complications, recurrence and mortality. RESULTS: Complication rate was 39%. 58% of complications required intensive care or re-operation. Higher complication rates occurred with OGM > 40 mm diameter versus ≤ 40 mm (53 vs. 28%; p = 0.16); OGM with versus without severe perilesional oedema (59 vs. 19%; p = 0.26), more evident when corrected for tumour size; and patients receiving 1-2 days versus 3-5 days of pre-operative dexamethasone (75 vs. 19%; p = 0.016). Patients who were electively ventilated post-operatively versus those who were not had higher risk tumours but a lower complication rate (17 vs. 44%; p = 0.36) and a higher proportion making a good recovery (83 vs. 55%; p = 0.20). Complete versus incomplete resection had a higher complication rate (50 vs. 23%; p = 0.16) but no recurrence (0 vs. 25%; p = 0.07). CONCLUSION: Risk of morbidity with OGM resection is high. Higher complication risk is associated with larger tumours and greater perilesional oedema. Pre-operative dexamethasone for 3-5 days versus shorter periods may reduce the risk of complications. We describe a characteristic pattern of perilesional oedema termed 'sabre-tooth' sign, whose presence is associated with a higher complication rate and may represent an important radiological prognostic sign. Elective post-operative ventilation for patients with high-risk tumours may reduce the risk of complications.


Asunto(s)
Meningioma/cirugía , Procedimientos Neuroquirúrgicos/efectos adversos , Procedimientos Neuroquirúrgicos/métodos , Neoplasias de la Base del Cráneo/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antiinflamatorios/uso terapéutico , Edema Encefálico/epidemiología , Edema Encefálico/etiología , Niño , Preescolar , Cuidados Críticos/estadística & datos numéricos , Dexametasona/uso terapéutico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Meningioma/patología , Persona de Mediana Edad , Neoplasia Residual/patología , Complicaciones Posoperatorias/tratamiento farmacológico , Complicaciones Posoperatorias/epidemiología , Pronóstico , Reoperación/estadística & datos numéricos , Estudios Retrospectivos , Neoplasias de la Base del Cráneo/patología , Resultado del Tratamiento , Adulto Joven
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