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1.
Audiol Neurootol ; 24(4): 166-173, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31390618

RESUMEN

OBJECTIVE: To describe clinical and imaging findings in a group of patients affected by nonsyndromic deafness A9 (DFNA9), using advanced magnetic resonance imaging (MRI) with 3-dimensional (3D) fluid-attenuated inversion recovery (FLAIR) sequence. METHOD: A retrospective case review was conducted in a tertiary referral center in Italy. Four sequential adult DFNA9-affected patients, who had undergone MRI at our Department between January 2017 and June 2018, were enrolled (male = 2, female = 2; median age: 65.6 years; 8 diseased ears analyzed). Three patients were relatives; the fourth was unrelated. The main outcome measures - age, sex, records of audiological and vestibular testing, genetic assessment, MRI findings - were analyzed. RESULTS: All subjects suffered from bilateral progressive sensorineural hearing loss, more severely at the high frequencies and with a typical clinical pattern of bilateral chronic degenerative cochleovestibular deficit. Aural fullness was reported at the onset of the disease. All patients revealed a pathogenic heterozygous mutation in the Limulus factor C, Coch-5b2 and Lgl1 domain of cochlin. None of the patients showed a significant vestibular and cochlear endolymphatic hydrops at MRI, while high bilateral contrast enhancement on 4-h delayed postcontrast 3D FLAIR sequence was observed in all ears. CONCLUSIONS: Increased perilymph enhancement on 4-h delayed postcontrast 3D FLAIR sequence is the common imaging feature of DFNA9 ears, suggesting that blood-labyrinthine barrier breakdown may play the main role in the pathophysiology of this disease. Significant hydrops has been excluded by MRI. This finding might be clinically useful in differentiating DFNA9 disease from other pathologies with similar clinical findings like Ménière's disease.


Asunto(s)
Sordera/diagnóstico por imagen , Proteínas de la Matriz Extracelular/genética , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Mutación , Fenotipo , Adulto , Anciano , Sordera/genética , Femenino , Pérdida Auditiva Sensorineural/genética , Heterocigoto , Humanos , Italia , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Perilinfa/diagnóstico por imagen , Estudios Retrospectivos , Vestíbulo del Laberinto/diagnóstico por imagen
2.
Eur J Radiol ; 109: 77-82, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30527315

RESUMEN

BACKGROUND AND PURPOSE: A detailed knowledge of the normal Magnetic Resonance (MR) anatomy of the vestibular endolymphatic space (ES) could be useful to understand the linkage between endolymphatic hydrops (EH) and Ménière's disease (MD). Our aim was to describe the MR anatomy of the vestibular ES as depicted by MR imaging in healthy ears. METHODS: This report describes a single-center retrospective study. Three readers analyzed the healthy ears of 22 consecutive patients who had undergone MRI for unilateral sudden hearing loss. The readers described the vestibular ES based on a delayed post-contrast 3D-FLAIR sequence according to six well-defined planes, three oblique sagittal (lateral, intermediate and medial) planes and three axial (superior, intermediate and inferior) planes. RESULTS: On sagittal lateral and intermediate planes, we identified the SSC ampulla combined with the utricle in 22/22 ears. On the sagittal medial plane, the saccule was detectable in 15/22 (68%) ears, having a club shape with the long axis oriented cranio-caudally; in 7/22 (32%) ears, the saccule presented an oval/round shape that appeared more conspicuously on the axial intermediate plane. The ES occupied the half superior portion of the vestibule in 22/22 ears, never contacting the round and oval windows. On the axial plane, in 17/22 cases, the ES showed a Y-shaped arrangement, while in 5/22 ears (23%), the ES presented a more globular shape. CONCLUSION: MR imaging represents a valid tool to explore the in vivo anatomy of the vestibular ES and to highlight its variability in normal ears.


Asunto(s)
Vestíbulo del Laberinto/anatomía & histología , Adulto , Anciano , Cóclea/anatomía & histología , Hidropesía Endolinfática/patología , Femenino , Voluntarios Sanos , Pérdida Auditiva Súbita/etiología , Pérdida Auditiva Súbita/patología , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Enfermedad de Meniere/patología , Persona de Mediana Edad , Ventana Oval/anatomía & histología , Estudios Retrospectivos , Vestíbulo del Laberinto/patología
3.
Eur J Radiol ; 106: 106-113, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30150031

RESUMEN

OBJECTIVE: We compared the image quality and radiation dose of flat-panel CT (FPCT) and multi-slice CT (MSCT) performed respectively with an angiographic unit and a 128-slice CT scanner. We investigated whether the higher spatial resolution of FPCT translated into higher image quality and we sought to eliminate inter-subject variability by scanning temporal bone specimens with both techniques. MATERIALS AND METHODS: Fifteen temporal bone specimens were imaged with FPCT and MSCT. Two neuroradiologists experienced in otoradiology evaluated 30 anatomical structures with a 0-2 score; 18 structures important from a clinical perspective were assigned a twofold value in calculation of the overall score. The radiation dose was calculated through the use of an anthropomorphic phantom. RESULTS: The image quality was significantly higher for FPCT than MSCT for 10 of the 30 anatomical structures; the overall score was also significantly higher for FPCT (p = 0.001). The equivalent dose of the two techniques was very similar, but with different effective doses to the organs. CONCLUSION: FPCT performed on an angiographic unit provides higher image quality in temporal bone assessment compared to MSCT performed on a 128-slice CT scanner thanks to its higher spatial resolution, with comparable equivalent doses but different effective doses to the organs.


Asunto(s)
Dosis de Radiación , Hueso Temporal/anatomía & histología , Tomógrafos Computarizados por Rayos X , Tomografía Computarizada por Rayos X/instrumentación , Tomografía Computarizada por Rayos X/métodos , Cadáver , Humanos
4.
J Neurol Neurosurg Psychiatry ; 89(4): 352-357, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29054920

RESUMEN

OBJECTIVE: To assess the connection between amyloid pathology and white matter (WM) macrostructural and microstructural damage in demented patients compared with controls. METHODS: Eighty-five participants were recruited: 65 with newly diagnosed Alzheimer's disease (AD), non-AD dementia or mild cognitive impairment and 20 age-matched and sex-matched healthy controls. ß-amyloid1-42 (Aß) levels were determined in cerebrospinal fluid (CSF) samples from all patients and five controls. Among patients, 42 had pathological CSF Aß levels (Aß(+)), while 23 had normal CSF Aß levels (Aß(-)). All participants underwent neurological examination, neuropsychological testing and brain MRI. We used T2-weighted scans to quantify WM lesion loads (LLs) and diffusion-weighted images to assess their microstructural substrate. Non-parametric statistical tests were used for between-group comparisons and multiple regression analyses. RESULTS: We found an increased WM-LL in Aß(+) compared with both, healthy controls (p=0.003) and Aß(-) patients (p=0.02). Interestingly, CSF Aß concentration was the best predictor of patients' WM-LL (r=-0.30, p<0.05) when using age as a covariate. Lesion apparent diffusion coefficient value was higher in all patients than in controls (p=0.0001) and correlated with WM-LL (r=0.41, p=0.001). In Aß(+), WM-LL correlated with WM microstructural damage in the left peritrigonal WM (p<0.0001). CONCLUSIONS: WM damage is crucial in AD pathogenesis. The correlation between CSF Aß levels and WM-LL suggests a direct link between amyloid pathology and WM macrostructural and microstructural damage.


Asunto(s)
Enfermedad de Alzheimer/líquido cefalorraquídeo , Péptidos beta-Amiloides/líquido cefalorraquídeo , Disfunción Cognitiva/líquido cefalorraquídeo , Fragmentos de Péptidos/líquido cefalorraquídeo , Sustancia Blanca/diagnóstico por imagen , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/diagnóstico por imagen , Estudios de Casos y Controles , Disfunción Cognitiva/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad
5.
Neuroradiol J ; 31(1): 39-41, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29046124

RESUMEN

We report a case of a 57-year-old man with bilateral masses in the internal auditory canal. The peculiar findings at magnetic resonance imaging with tridimensional fluid-attenuated inversion recovery sequence combined with clinical data provided new insights into understanding the pathophysiology of the hearing loss.


Asunto(s)
Oído Interno/patología , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Súbita/diagnóstico por imagen , Pérdida Auditiva Súbita/etiología , Imagenología Tridimensional , Imagen por Resonancia Magnética/métodos , Melanoma/secundario , Neoplasias Cutáneas/patología , Audiometría de Tonos Puros , Medios de Contraste , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Compuestos Organometálicos
6.
J Public Health Res ; 1(3): 240-2, 2012 Dec 28.
Artículo en Inglés | MEDLINE | ID: mdl-25170471

RESUMEN

This short paper describes the introduction of a clinical pathway for cranio-facial trauma (CFT) in an emergency room of a big research and teaching hospital.

8.
Leuk Lymphoma ; 48(8): 1577-86, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17701590

RESUMEN

Invasive fungal rhinosinusitis (IFR) is a life-threatening infection. Its onset is subtle and a late diagnosis leads to severe complications. Death may occur within a few weeks notwithstanding treatment. We describe a comprehensive pre- and post-operative approach to care for haematological patients with IFR. Five haematological patients with IFR were treated with systemic antifungal therapy and endoscopic surgical debridement of infected tissues, followed by amphotericin-B directly instilled in the sinuses by a new type of ethmoidal drainage. The IFR remitted in all cases; after 32 months of follow-up, three patients are still alive, and two have died of other causes. Two of the patients who experienced IFR progression to the brain at the IFR onset are still alive. The pharmacological and surgical approach with the post-operative local therapy by a new ethmoidal drainage system could support radical antifungal sinus treatment, thus improving the overall survival.


Asunto(s)
Anfotericina B/uso terapéutico , Antifúngicos/uso terapéutico , Aspergilosis/tratamiento farmacológico , Sinusitis/tratamiento farmacológico , Enfermedad Aguda , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Aspergilosis/microbiología , Enfermedad Crónica , Femenino , Humanos , Huésped Inmunocomprometido , Leucemia Mieloide/complicaciones , Leucemia Mieloide/terapia , Masculino , Persona de Mediana Edad , Trastornos Mieloproliferativos/complicaciones , Trastornos Mieloproliferativos/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Sinusitis/microbiología , Trasplante de Células Madre
9.
Eur J Endocrinol ; 156(1): 33-40, 2007 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17218723

RESUMEN

INTRODUCTION: Hyperthyroid Graves' disease (GD) is a B-cell-mediated condition caused by TSH receptor antibodies (TRAb), which decline when GD remits. Anti-CD20 monoclonal antibody rituximab (RTX) induces transient B-cell depletion that may potentially modify the active inflammatory phase of thyroid-associated ophthalmopathy (TAO). METHODS: Nine patients with GD, (seven with active TAO, two with mild lid signs) were studied. The trial was only approved as an open pilot study; thus we compared the effect of RTX therapy to that of i.v. glucocorticoids (IVGC) in 20 consecutive patients. Patients were treated with RTX (1000 mg i.v. twice at 2-week interval) or with IVGC (500 mg i.v. for 16 weeks). TAO was assessed by the clinical activity score (CAS) and severity was classified using NOSPECS (No signs or symptoms; Only signs (lid); Soft tissue involvement; Proptosis, Extraocular muscle involvement; Corneal involvement; Sight loss). Thyroid function and lymphocyte count were measured by standardized methods. RESULTS: All patients attained peripheral B-cell depletion with the first RTX infusion. Minor side effects were reported in three patients. Thyroid function was not affected by RTX therapy and hyperthyroid patients required therapy with methimazole. After RTX, the changes in the levels of thyroglobulin antibodies, thyroperoxidase antibodies and TRAb were neither significant nor correlated with CD20+ depletion (P = NS). CAS values before RTX were 4.7 +/- 0.5 and decreased to 1.8 +/- 0.8 at the end of follow-up (P < 0.0001) and more significantly compared with IVGC (P < 0.05). Proptosis decreased significantly after RTX both in patients with active TAO (ANOVA; P < 0.0001) and those with lid signs (ANOVA; P < 0.003). The degree of inflammation (class 2) decreased significantly in response to RTX (ANOVA; P < 0.001). Relapse of active TAO was not observed in patients treated with RTX, but occurred in 10% of those treated with IVGC, who also experienced adverse effects more frequently (45 vs 33% of patients). CONCLUSIONS: RTX positively affects the clinical course of TAO, independently of either thyroid function or circulating antithyroid antibodies, including TRAb. If our findings are confirmed in large controlled studies, RTX may represent a useful therapeutic tool in patients with active TAO.


Asunto(s)
Anticuerpos Monoclonales/uso terapéutico , Antígenos CD20/inmunología , Enfermedad de Graves/tratamiento farmacológico , Oftalmopatía de Graves/tratamiento farmacológico , Adulto , Antiinflamatorios/administración & dosificación , Antiinflamatorios/uso terapéutico , Anticuerpos Monoclonales de Origen Murino , Linfocitos B/inmunología , Linfocitos B/fisiología , Femenino , Humanos , Inyecciones Intravenosas , Masculino , Metilprednisolona/administración & dosificación , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Rituximab , Pruebas de Función de la Tiroides , Hormonas Tiroideas/sangre
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