Prevalence of neuromyelitis optica spectrum disorder in Colombia: Analysis of the official Ministry of Health administrative registry.

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is a rare entity with severe inflammatory demyelinating events of the central nervous system with debilitating sequelae. Its global prevalence ranges between 0.5 and 4/100,000 individuals, with variations by region and ethnicity. Latin America lacks epidemiological data on the disease, and Colombian prevalence is unknown. OBJECTIVE: Prevalence of NMOSD in Colombia was estimated between 2017 and 2021 using the official Ministry of Health administrative database (SISPRO). METHODS: This is an observational, cross-sectional retrospective study, using data between January 2017 and December 2021 in the SISPRO database using the International Classification of Disease code for NMOSD G36.0. Prevalence by gender, age and geographic distribution was estimated using official government statistics for 2019. World Health Organization (WHO) standard population was used to adjust using the direct method. RESULTS: 2,650 patients were diagnosed with NMOSD; the average age was 44.9 years with an overall unadjusted prevalence of 5.3/100,000 individuals, higher for females (7.8) than for males (2.8). No significant changes (from 5.3 to 5.4) were seen after adjusting to the WHO standard. CONCLUSION: According to this study Colombia has one of the highest prevalence rates of NMOSD in Latin America, further studies are needed to elucidate the contributing factors.

The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis.

Optic neuritis (ON) often occurs at the presentation of multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD). The recommended treatment of high-dose corticosteroids for ON is based on a North American study population, which did not address treatment timing or antibody serostatus. The Acute Optic Neuritis Network (ACON) presents a global, prospective, observational study protocol primarily designed to investigate the effect of time to high-dose corticosteroid treatment on 6-month visual outcomes in ON. Patients presenting within 30 days of the inaugural ON will be enrolled. For the primary analysis, patients will subsequently be assigned into the MS-ON group, the aquapotin-4-IgG positive ON (AQP4-IgG+ON) group or the MOG-IgG positive ON (MOG-IgG+ON) group and then further sub-stratified according to the number of days from the onset of visual loss to high-dose corticosteroids (days-to-Rx). The primary outcome measure will be high-contrast best-corrected visual acuity (HC-BCVA) at 6 months. In addition, multimodal data will be collected in subjects with any ON (CIS-ON, MS-ON, AQP4-IgG+ON or MOG-IgG+ON, and seronegative non-MS-ON), excluding infectious and granulomatous ON. Secondary outcomes include low-contrast best-corrected visual acuity (LC-BCVA), optical coherence tomography (OCT), magnetic resonance imaging (MRI) measurements, serum and cerebrospinal fluid (CSF) biomarkers (AQP4-IgG and MOG-IgG levels, neurofilament, and glial fibrillary protein), and patient reported outcome measures (headache, visual function in daily routine, depression, and quality of life questionnaires) at presentation at 6-month and 12-month follow-up visits. Data will be collected from 28 academic hospitals from Africa, Asia, the Middle East, Europe, North America, South America, and Australia. Planned recruitment consists of 100 MS-ON, 50 AQP4-IgG+ON, and 50 MOG-IgG+ON. This prospective, multimodal data collection will assess the potential value of early high-dose corticosteroid treatment, investigate the interrelations between functional impairments and structural changes, and evaluate the diagnostic yield of laboratory biomarkers. This analysis has the ability to substantially improve treatment strategies and the accuracy of diagnostic stratification in acute demyelinating ON. Trial registration: ClinicalTrials.gov, identifier: NCT05605951.

Hippocampal infarction: redefining transient global amnesia.

BACKGROUND AND AIMS: Transient global amnesia (TGA) is a clinical syndrome characterized by sudden anterograde amnesia not accompanied by other neurological symptoms. There is no consensus on the underlying pathophysiological mechanism. However, diffusion-weighted imaging (DWI) of the magnetic resonance imaging (MRI) has demonstrated hippocampal lesions in as many as 50% of cases. This paper describes a series of patients with TGA and hippocampal lesions. METHODS: This study assessed vascular risk factors in patients older than age 18 admitted to the Hospital Universitario San Ignacio, Bogota, Colombia, from May 2017 to June 2020 with a diagnosis of TGA and evidence of hippocampal ischemic lesion on 3 Tesla brain MRI. RESULTS: The authors identified 36 patients, 72.2% female, with mean age 62 years. Cardiovascular risk factors, most frequently high blood pressure, carotid disease, and dyslipidemia, were present in 75% of these patients. Hippocampal lesions were unilateral in 80% of cases, with median size 2.5 mm, most frequently located at the hippocampal body. Approximately 14% of patients also presented acute ischemic lesions in locations other than the hippocampus. CONCLUSIONS: TGA is a clinical entity previously considered to have undetermined etiology. The present study used brain MRI to identify a group of patients with hippocampal ischemic lesions, finding associated vascular risk factors in a high proportion of them.

Volumetric Study of Nonfunctioning Pituitary Adenomas: Predictors of Gross Total Resection.

OBJECTIVE: Despite the efforts made to determine the achieved resection grade after pituitary adenoma surgery, there is a high level of disagreement among all the available classifications and measurement methods used. Our objective is to identify the factors that preoperatively could predict a gross total resection (GTR) of a clinically nonfunctioning pituitary adenoma through an endoscopic endonasal approach. METHODS: Across 100 surgeries, we analyzed epidemiologic and clinical data, radiologic relevant data, extent of resection (EOR), and postoperative outcomes. The EOR was measured objectively through an accurate volumetric analysis. RESULTS: The median presurgical volume was 8.58 cm3 (range, 0.5-58 cm3), the median maximum diameter was 27.3 mm (range, 7-67 mm), and the Knosp grade was 0 in 1 patient, 1 in 23%, 2 in 31%, 3 in 23% and 4 in 22% of patients. In the multivariate logistic regression analysis, we found 3 factors that significantly predicted the chances of a successful GTR: previous sellar surgery, Knosp grade, and tumor signal in the T2-weighted magnetic resonance imaging scan. Another 10 radiologic variables were analyzed and had no effect on the EOR. CONCLUSIONS: Knosp grade (P < 0.001; odds ratio [OR], 25.65; 95% confidence interval, 7.19-91.52) is the most predictive factor for performing a GTR of nonfunctioning pituitary adenoma. Previous pituitary surgery (P = 0.023; OR, 5.81) and an isointense T2-weighted signal (P = 0.034; OR, 3.75) also negatively influenced the chances of GTR. We highlight the influence of T2-weighted signal in the chances of GTR.

Coexistencia de lupus eritematoso sistémico y miastenia gravis. Una expresión infrecuente de poliautoinmunidad / Coexistence of systemic lupus erythematosus and myasthenia gravis: an unusual case of polyautoimmunity

La relevancia clínica de la poliautoinmunidad, definida como la presencia de 2o más enfermedades autoinmunes en un mismo individuo, es uno de los temas aun sin dilucidar en la práctica médica. La coexistencia entre miastenia gravis (MG) y lupus eritematoso sistémico (LES) supone un reto clínico por los posibles diagnósticos diferenciales dados en el momento de abordar el compromiso muscular en pacientes con LES. Presentamos el caso de una paciente que consultó a urgencias del Hospital Universitario San Ignacio de Bogotá, Colombia, con diagnóstico previo de LES, que desarrolla un síndrome de debilidad aguda en el contexto de una infección sistémica, haciendo diagnóstico clínico y electrofisiológico de MG

The relevance of polyautoimmunity, defined as the presence of 2or more autoimmune diseases in the same individual, is one of the issues not yet elucidated in medical practice. The coexistence of myasthenia gravis (MG) and systemic lupus erythematosus (SLE) is a clinical challenge due to the possible differential diagnoses of muscle involvement in patients with SLE. We present the case of a patient who came to the emergency room of Hospital Universitario San Ignacio in Bogotá, Colombia, with a previous diagnosis of SLE, who developed acute weakness in the context of a systemic infection, with a clinical and electrophysiological diagnosis of MG

Síndrome de Sjögren neuropsiquiátrico / Neuropsychiatrie Sjögren's Syndrome

RESUMEN El síndrome de Sjögren primario (SSp) es una enfermedad autoinmune que afecta principalmente al tejido glandular. A pesar de ello, puede involucrar otros sistemas, siendo el compromiso neuropsiquiátrico una manifestación extraglandular común. Su presentación clínica varía ampliamente según el dominio que se encuentre afectado, y por tanto puede dividirse en tres grandes categorías: sistema nervioso central, sistema nervioso periférico y psiquiátrico. Algunas de estas complicaciones comparten mecanismos fisiopatológicos comunes, entre los principales la vasculitis/vasculopatía, la infiltración linfocítica y la presencia de anticuerpos antineuronales. La diversidad en la presentación clínica de esta entidad impide hacer una aproximación diagnóstica común, por lo cual la utilización de estudios específicos depende de un adecuado reconocimiento y de la localización por parte del clínico. El tratamiento debe dirigirse al mecanismo fisiopatológico implicado y, de acuerdo con el tipo de manifestación, puede incluso estar limitado al manejo sintomático.

ABSTRACT Primary Sjögren's syndrome is an autoimmune disease that mainly involves glandular tissue. Despite this, it can potentially develop systemic involvement, within which neuropsychiatric manifestations are common. The clinical presentation may vary widely depending on the domain affected, and may thus be classified into three categories: central nervous system, peripheral nervous system, and psychiatric. Some of these complications share a common pathophysiology, amongst which are vasculitis/ vasculopathy, lymphocytic infiltration and positive antineuronal antibodies. The wide clinical presentation makes it difficult to establish a common diagnostic approach, making it essential for the clinician to recognise and localise the type of compromise, so that diagnostic tools can be more advantageously employed. Treatment must be directed towards the underlying pathophysiology, and depending on the type of compromise, it can even be limited solely to the management of symptoms.

Síndrome de Sjögren primario que debuta con polimiositis mitocondrial, neuropatía axonal y parálisis hipopotasémica: reporte de caso / Onset of primary Sjögren syndrome with mitochondrial polymyositis, axonal neuropathy, and hypokalaemic paralysis: Case report

RESUMEN El síndrome de Sjögren es una entidad multisistémica de naturaleza autoinmune, clásicamente considerada una exocrinopatía debido a la alta frecuencia de síntomas secos (queratoconjuntivitis seca, xerostomía) como resultado de infiltración poliglandular por linfocitos autorreactivos. Sin embargo, menos del 10% de estos pacientes puede iniciar con manifestaciones extraglandulares severas, traducidas en peores desenlaces a largo plazo. Se presenta el caso de una gestante que inició con síndrome de debilidad aguda proximal relacionada con miositis con enfermedad mitocondrial e hipopotasemia severa, en el contexto de acidosis tubular renal distal, como manifestación extraglandular de síndrome de Sjögren primario. Se discuten brevemente manifestaciones neurológicas de esta entidad, incluyendo aquellas secundarias a trastornos metabólicos precipitados por compromiso autoinmune.

ABSTRACT Sjögren's syndrome is a multisystemic autoimmune disorder. It is classically considered as an exocrine disease, given the high frequency of dry symptoms (keratoconjunctivitis sicca, xerostomia) as a result of poly-glandular infiltration by autoreactive lymphocytes. However, less than 10% of these patients can onset with severe extra-glandular manifestations, resulting in worse long-term outcomes. The case of a pregnant woman is presented, who debuted with acute proximal weakness syndrome related to myositis with mitochondrial pathology and severe hypokalaemia in the context of distal renal tubular acidosis, as an extra-glandular manifestation of primary Sjögren's syndrome. Neurological manifestations of this condition are briefly discussed, including those secondary to metabolic disorders precipitated by autoimmune compromise.

Adenomas hipofisarios no funcionantes: epidemiología, clínica y evolución posquirúrgica / Non-functioning pituitary adenomas: epidemiology, clinical and postoperative outcome

INTRODUCCIÓN: Los adenomas hipofisarios no funcionantes son el grupo tumoral más frecuente en la región selar. Suelen ser neoplasias benignas diagnosticadas por síntomas visuales u hormonales, aunque no es infrecuente detectarlos como un hallazgo casual. OBJETIVO: Analizar los aspectos clínicos hallados en esta enfermedad y su respuesta tras el tratamiento quirúrgico. PACIENTES Y MÉTODOS: En una serie de 100 casos, se analizaron datos epidemiológicos, clínicos, endocrinológicos, visuales y radiológicos antes y después del tratamiento quirúrgico, y se recogen las complicaciones relacionadas con la cirugía y el seguimiento a largo plazo. RESULTADOS: El síntoma más frecuente en el momento del diagnóstico fue la afectación del campo visual (62%), y sólo el 7% de los adenomas se trataba de un hallazgo casual. El déficit hormonal más frecuente era el hipogonadismo hipogonadótropo (48%). Tras la cirugía se observó recuperación completa del defecto campimétrico en el 54,8% de los pacientes, con sólo un 1% de empeoramiento tras la cirugía, y la incidencia de diabetes insípida fue del 4%. La resección fue superior al 95% en el 63% de los casos, a pesar de que el porcentaje de adenomas con invasión del seno cavernoso en grados altos fue elevado (45%). CONCLUSIONES: Aunque el síntoma más frecuente de los adenomas hipofisarios no funcionantes es la afectación campimétrica, ésta tiene una excelente respuesta a la cirugía si se realiza dentro del tiempo adecuado. El grado de invasión del seno cavernoso parece el factor más limitante para una resección quirúrgica completa

INTRODUCTION: Non-functioning pituitary adenomas are the most frequent tumor group in the sellar region. They are usually benign neoplasms diagnosed after visual or hormonal symptoms, although it is not uncommon to detect them as a casual finding. AIM: To analyze the clinical aspects found in this disease and its response after surgical treatment. PATIENTS AND METHODS: In a series of 100 cases, epidemiological, clinical, endocrinological, visual and radiological data were analyzed before and after surgical treatment, as well as the complications related to surgery and long-term follow-up. RESULTS: The most frequent symptom at the time of diagnosis was visual field involvement (62%), and only the 7% of adenomas were a casual finding. The most common hormonal deficit was hypogonadotropic hypogonadism (48%). After surgery, complete recovery of the visual field defect was observed in 54.8% of the patients, only 1% worsening after surgery, and the incidence of diabetes insipidus was 4%. The resection was superior to 95% in 63% of cases, although the percentage of adenomas with invasion of the cavernous sinus in Knosp grades 3 and 4 it was high (45%). CONCLUSIONS: Although the most frequent symptom of non-functioning pituitary adenomas is campimetric involvement, it has an excellent response to surgery if it is performed within the appropriate time. The grade of invasion of the cavernous sinus is the most limiting factor for a complete surgical resection

Free Mucosal Graft for Reconstruction after Nonfunctional Pituitary Adenoma Surgery.

BACKGROUND: In the search for an effective closure without nasosinusal morbidity, we have studied the efficacy of free mucosal graft as a reconstructive technique of the sellar floor after the resection of nonfunctioning pituitary adenomas (NFPA). METHODS: In 100 endonasal endoscopic surgeries, we analyzed the personal history, radiological and intraoperative aspects that could have an impact on the risk of postoperative cerebrospinal fluid (CSF) leak. They were divided into three groups: no mucosa flap/graft, mucosal free graft, and nasoseptal pedicled flap. RESULTS: The characteristics of the patients and adenomas were the same in all three groups. Intraoperative CSF leak was observed in 1/13 cases of the group without graft/flap (7%), in 16/50 of the free mucosal graft (32%) and 12/37 (32%) of pedicle flap. The proportion of cases in which other means of reconstruction were used in addition (fat, collagen matrix, and sealant) was similar in the different groups. No CSF leaks were observed, except for a doubtful one in the free mucosal graft group, which resolved spontaneously within 24 h, without receiving any type of treatment. CONCLUSIONS: The middle turbinate free mucosal graft can be of great value in endonasal surgery: It achieves a hermetic closure in cases of low-flow CSF leaks, it can be useful as a rescue for cases where nasoseptal mucosa is not available to perform a pedicled nasoseptal flap, minimizes the nasosinusal complications of the pedicled flap by leaving a smaller surface area of the nasal cavity devoid of the mucosa, and achieves greater nasosinusal functionality because proper reepithelialization occurs in the area.

Coexistence of Systemic Lupus Erythematosus and Myasthenia Gravis: An Unusual Case of Polyautoimmunity. / Coexistencia de lupus eritematoso sistémico y miastenia gravis. Una expresión infrecuente de poliautoinmunidad.

The relevance of polyautoimmunity, defined as the presence of 2or more autoimmune diseases in the same individual, is one of the issues not yet elucidated in medical practice. The coexistence of myasthenia gravis (MG) and systemic lupus erythematosus (SLE) is a clinical challenge due to the possible differential diagnoses of muscle involvement in patients with SLE. We present the case of a patient who came to the emergency room of Hospital Universitario San Ignacio in Bogotá, Colombia, with a previous diagnosis of SLE, who developed acute weakness in the context of a systemic infection, with a clinical and electrophysiological diagnosis of MG.

Paquimeningitis hipertrófica. Manifestación inusual en las vasculitis anca-positivas / Hypertrophic Pachymeningitis. Unusual manifestation in vasculitis anca-positive

Introducción: La vasculitis ANCA-positiva es una patología que se caracteriza por daño en vasos de pequeño calibre secundario a auto-anticuerpos. El compromiso del sistema nervioso central es poco común, con complicaciones serias y de difícil diagnóstico. Por eso presenta-mos 3 casos de pacientes con paquimeningitis hipertrófica como manifestación neurológica de vasculitis ANCA-positiva, estudiados en el Hospital Universitario San Ignacio de Bogotá. Casos:Se tratan de dos hombres y una mujer. El hombre del primer caso presentó clínica progresiva de 1 año de evolución de dolor ocular, alteración de la agudeza visual, limitación para los movimientos oculares y disartria (Imagen 1).

How many patients with rheumatic diseases and TNF inhibitors treatment have latent tuberculosis? / ¿Cuántos pacientes con enfermedades reumáticas en tratamiento con anti-TNF alfa tienen tuberculosis latente?

Objectives. Spanish clinical guidelines recommend screening patients for tuberculosis (TB) before TNF inhibitors (TNFi) treatment. Our objective was to estimate the prevalence of TST seroconversion as an estimation of the prevalence of latent TB in patients with rheumatic diseases and TNFi treatment that have already been screened for tuberculosis. Methods. TST, booster and chest x-ray were performed to patients with rheumatic diseases, TNFi treatment, negative tuberculin skin tests before treatment and that were attending the rheumatology Department of three different hospitals in Barcelona. According to the Spanish Society Rheumatology guidelines, these patients had not received TB prophylaxis treatment. Results. One hundred and forty patients were included in the study. The tuberculin skin test was positive in 4.28% (n=6) of the patients. 50% of the patients were undergoing TNFi ≤ 2 years, being two of the patients only one year on the TNFi when a positive TST was detected. This shows that a conversion of the TST can occur even few months or years after the TNFi is started. Conclusions. The present study observed that 4.28% of patients with rheumatic diseases on TNFi who did not have performed a pre-treatment TB prophylaxis, had a conversion of the TST. Moreover, the conversion of the TST had been within the first two years of treatment in half of the patients of our cohort. In spite of these results, false TST positives in the diagnosis of latent TB cannot be excluded as an explanation for our results (AU)

Objetivos. Las guías de la Sociedad Española de Reumatología recomiendan el cribaje de tuberculosis (TB) antes del tratamiento con inhibidores del TNF (TNFi). El objetivo de este estudio fue estimar la prevalencia de seroconversión de la PT como estimación de la prevalencia de TB latente en pacientes con enfermedades reumáticas y tratamiento con TNFi a los que ya se había realizado el cribaje de TB previo al tratamiento. Métodos. Se realizó un cribado de TB a los pacientes con enfermedades reumáticas en tratamiento con TNFi, con un screening pre-tratamiento negativo, que acudían al servicio de reumatología de tres hospitales de Barcelona. De acuerdo a las guías, estos pacientes no habían recibido tratamiento profiláctico para la TB. Resultados. Se incluyeron a 140 pacientes. La PT fue positiva en 4,28% (n=6) de los pacientes. El 50% de los pacientes estaban en tratamiento con TNFi por ≤ 2 años y había dos pacientes que solo llevaban un año con TNFi. Esto muestra que la seroconversión de la PT puede ocurrir incluso poco tiempo después de iniciado el tratamiento con TNFi. Conclusiones. Se observó que un 4,28% de los pacientes con enfermedades reumáticas en tratamiento con TNFi y que no habían realizado una profilaxis para TB previa al tratamiento tenían una seroconversión de la PT. Esta seroconversión había tenido lugar durante los dos años siguientes al inicio del tratamiento, en la mitad de los pacientes de la cohorte estudiada. A pesar de estos resultados, no se pueden excluir falsos positivos a la PT (AU)

How many patients with rheumatic diseases and TNF inhibitors treatment have latent tuberculosis?

OBJECTIVES: Spanish clinical guidelines recommend screening patients for tuberculosis (TB) before TNF inhibitors (TNFi) treatment. Our objective was to estimate the prevalence of TST seroconversion as an estimation of the prevalence of latent TB in patients with rheumatic diseases and TNFi treatment that have already been screened for tuberculosis. METHODS: TST, booster and chest x-ray were performed to patients with rheumatic diseases, TNFi treatment, negative tuberculin skin tests before treatment and that were attending the rheumatology Department of three different hospitals in Barcelona. According to the Spanish Society Rheumatology guidelines, these patients had not received TB prophylaxis treatment. RESULTS: One hundred and forty patients were included in the study. The tuberculin skin test was positive in 4.28% (n=6) of the patients. 50% of the patients were undergoing TNFi ≤ 2 years, being two of the patients only one year on the TNFi when a positive TST was detected. This shows that a conversion of the TST can occur even few months or years after the TNFi is started. CONCLUSIONS: The present study observed that 4.28% of patients with rheumatic diseases on TNFi who did not have performed a pre-treatment TB prophylaxis, had a conversion of the TST. Moreover, the conversion of the TST had been within the first two years of treatment in half of the patients of our cohort. In spite of these results, false TST positives in the diagnosis of latent TB cannot be excluded as an explanation for our results.

Rivastigmina parches sola o combinada con memantina, comparada con memantina sola en pacientes con enfermedad de Alzheimer moderada y severa: revisión sistemática de la literatura / Rivastigmine patches alone or combined with memantine compared with memantine alone in patients with moderate to severe Alzheimer's disease: Systematic review of the literature

Resumen Introducción: la enfermedad de Alzheimer (EA), una condición neurodegenerativa irreversible y progresiva, es la causa más frecuente de demencia y genera una gran carga económica anual. El objetivo de este estudio fue realizar una revisión sistemática de la literatura para determinar la seguridad y eficacia de rivastigmina parche, sola o en combinación con memantina, comparadas con la memantina en monoterapia para el tratamiento de la EA moderada y severa. Métodos: se realizó una búsqueda sistemática de la literatura. Se incluyeron estudios clínicos controlados aleatorizados de pacientes con diagnóstico de EA moderada a severa, evaluando los desenlaces de eficacia y seguridad. Resultados: los resultados de los estudios experimentales que comparan dosis de rivastigmina en parche, indican una posible diferencia en algunos desenlaces de eficacia, tales como desempeño de las actividades diarias, actividades instrumentales y funcionamiento general en pacientes con EA moderada y severa, sin diferencia significativa en los desenlaces de seguridad. Se observó una tendencia a favor de la terapia combinada en algunos desenlaces como cambio en puntuación de MMSE y actividades diarias instrumentales. Discusión: la evidencia disponible apoya el uso de rivastigmina, y la combinación con memantina parece una opción terapéutica apropiada en casos seleccionados.

Summary Introduction: Alzheimer's disease (AD), an irreversible, progressive neurodegenerative condition, is the most common cause of dementia and generates a high economic burden. The aim of this study was to conduct a systematic review of the literature to determine the safety and efficacy of rivastigmine patch, alone or in combination with memantine, compared with memantine monotherapy for the treatment of moderate to severe AD. Methods: A systematic search of the literature was conducted. Including randomized controlled trials of patients diagnosed with moderate to severe AD, evaluating outcomes of effectiveness and safety. Results: The results of experimental studies comparing doses of rivastigmine patches indicate a possible difference in some of the outcomes of effectiveness such as performance in activities of daily living, instrumental activities, and overall functioning, in patients with moderate and severe AD, without significant difference in safety outcomes. A trend in favor of combination therapy in some of the outcomes, as change in MMSE score and instrumental daily activities, was observed. Discussion: The available evidence supports the use of rivastigmine, and the association with memantine seems an appropriate therapeutic option in selected cases.

Bilateral Synchronous Ectopic Ethmoid Sinus Olfactory Neuroblastoma: A Case Report.

BACKGROUND: Olfactory neuroblastoma (ONB), also known as esthesioneuroblastoma, is a rare malignant head and neck cancer thought to originate from the olfactory epithelium. It typically invades contiguous structures at presentation. We report a very rare case of multifocal and ectopic ONB. CASE REPORT: A 41-year-old man presented with left nasal obstruction and occasional left epistaxis associated with headache. Endoscopic examination of the nasal cavities and computed tomography suggested bilateral polypoid masses. Histopathological diagnosis after endoscopic resection established bilateral olfactory neuroblastoma of the ethmoid sinuses. The patient received postoperative radiotherapy. He remains free of disease 4 years after treatment. CONCLUSIONS: To the best of our knowledge this is the second documented case of multifocal ectopic olfactory neuroblastoma. Clinicians should consider ONB in the differential diagnosis of bilateral synchronous nasal and paranasal masses to avoid delayed diagnosis. Endoscopic resection of ONB could be an option in selected cases.

Cyclin D1 expression and histopathologic features in vestibular schwannomas.

OBJECTIVE: To evaluate cyclin D1 expression in vestibular schwannoma and its relationship with histologic, clinical, and radiologic features. PATIENTS: Twenty-one patients with histologically confirmed vestibular schwannoma. INTERVENTION: Immunohistochemistry analysis was performed with anticyclin D1. Histopathologic features studied included Antoni pattern and nuclear and stromal degenerative changes. Clinical charts, audiometric data, and magnetic resonance imaging characteristics were reviewed. MAIN OUTCOME MEASURES: Cyclin D1 expression and its association with histologic, clinical, and radiologic findings. RESULTS: Cyclin D1 expression was found in 52% of cases. Cyclin D1 expression was more frequent in right-sided tumors (p = 0.02) and in tumors with nuclear degenerative changes (p < 0.0001). Patients with negative cyclin D1 expression had longer duration of deafness (p = 0.02) and higher 2,000-Hz hearing thresholds (p = 0.04) than cyclin D1+ patients. CONCLUSION: Cyclin D1 expression, present in nearly half of the cases, may play a role in the development of these tumors. Further studies are needed to fully understand the contributions of histopathologic and immunohistochemical factors to vestibular schwannoma biological activity.

[Quality of life following vestibular schwannoma surgery]. / Calidad de vida tras la cirugía del schwannoma vestibular.

OBJECTIVE: This study evaluates quality of life (QOL) in patients following surgery for vestibular schwannoma (VS) using the Glasgow Benefit Inventory (GBI), and a pain questionnaire. MATERIAL AND METHOD: The questionnaires were sent to 95 patients who had undergone surgery at our institution. The impact of several factors on self-assessed QOL was also evaluated. RESULTS: The response rate was 72 %. Considering overall QOL, 30 % patients reported that QOL became better, 56 % patients said it was worse, and in 14 % patients it remained the same. No differences in postoperative QOL were found when comparing side, gender, age, tumor size, hearing preservation, or post-operative facial function. Deterioration of postoperative QOL was less frequent in patients with vertigo and brain stem compression before surgery. Post-operative pain was associated with poorer QOL. CONCLUSIONS: QOL becomes worse in several cases after surgery for VS. However, patients must understand that the main goal of VS surgery is to avoid life-threatening complications or death.

Calidad de vida tras la cirugía del schwannoma vestibular / Quality of life following vestibular schwannoma surgery

Objetivo: Evaluar la calidad de vida (CV) tras la cirugía del schwannoma vestibular (SV) utilizando el Glasgow Benefit Inventory (GBI) y un cuestionario para el dolor. Material y método: Enviamos cuestionarios a 95 pacientes intervenidos en nuestro servicio. Analizamos la influencia de factores clínicos y epidemiológicos en la CV. Resultados: Contestó el 72 % de los pacientes. Considerando la CV general, en el 30 % mejoró, en el 56 % empeoró y en el 14 % no varió. No encontramos relación de la CV con el lado, el sexo, la edad, el tamaño tumoral, la preservación de la audición o la función facial. La CV se deteriora menos frecuentemente en pacientes con vértigo o compresión de tronco antes de la cirugía, y más en pacientes con dolor postoperatorio. Conclusiones: La CV se deteriora en un número considerable de pacientes. El paciente debe comprender que el principal objetivo de la cirugía es evitar complicaciones vitales

Objetive: This study evaluates quality of life (QOL) in patients following surgery for vestibular schwannoma (VS) using the Glasgow Benefit Inventory (GBI), and a pain questionnaire. Material and method: The questionnaires were sent to 95 patients who had undergone surgery at our institution. The impact of several factors on self-assessed QOL was also evaluated. Results: The response rate was 72 %. Considering overall QOL, 30 % patients reported that QOL became better, 56 % patients said it was worse, and in 14 % patients it remained the same. No differences in postoperative QOL were found when comparing side, gender, age, tumor size, hearing preservation, or post-operative facial function. Deterioration of postoperative QOL was less frequent in patients with vertigo and brain stem compression before surgery. Post-operative pain was associated with poorer QOL. Conclusions: QOL becomes worse in several cases after surgery for VS. However, patients must understand that the main goal of VS surgery is to avoid life-threatening complications or death

Impact of facial dysfunction on quality of life after vestibular schwannoma surgery.

OBJECTIVES: This study was performed to evaluate the impact of facial dysfunction on quality of life in patients who underwent surgery for vestibular schwannoma. Other factors with a possible impact on quality of life were also assessed. METHODS: We performed a retrospective review of 95 patients who underwent removal of a unilateral vestibular schwannoma. The Glasgow Benefit Inventory, an open-ended questionnaire, and a pain scale were sent to each patient. The questions were answered by 70 respondents (74%). After a minimum 1-year follow-up, the overall House-Brackmann postoperative facial function was grade I-II in 61% of patients, grade III-IV in 36%, and grade V-VI in 3%. RESULTS: The open-ended questionnaire showed that 33% of patients stated a complaint related to facial dysfunction; it was the main complaint for 13% of patients. No significant difference was found in terms of Glasgow Benefit Inventory scores between patients with and without facial dysfunction, nor between those with different House-Brackmann grades. The most frequent complaint after surgery was hearing loss (46%). Postoperative pain was significantly associated with a worse postoperative quality of life. CONCLUSIONS: An overestimation of the effect of facial paralysis after vestibular schwannoma resection may exist on the surgeon's part. Detailed information about the possibility of hearing loss, vestibular problems, and pain must be given to all patients.

DNA methylation of multiple genes in vestibular schwannoma: Relationship with clinical and radiological findings.

HYPOTHESIS: The purpose of this study was to examine the DNA methylation profile of several genes in a series of vestibular schwannomas, and to analyze its relationship with clinical and radiological features. BACKGROUND: Aberrant methylation of promoter regions is a major mechanism for silencing of tumor suppressor genes in several tumors. There is limited information about methylation status in vestibular schwannoma, with no clinical or radiological implications described to date. METHODS: The methylation status of 16 tumor-related genes including RASSF1A, RAR-B, VHL, PTEN, HMLH1, RB1, TP16, CASP8, ER, TIMP3, MGMT, DAPK, TP73, GSTP1, TP14, and THBS1 was examined in a series of 22 vestibular schwannomas.The bisulfite modification of genomic DNA was performed. Clinical and radiological features were compared with the methylation results. RESULTS: Methylation values from 9% to 27% were found in 12 of 16 genes tested, including RASSF1A, VHL, PTEN, TP16, CASP8, TIMP3, MGMT, DAPK, THBS1, HMLH1, TP73, and GSTP1. A significant association was found between CASP8 and RASSF1A methylation. Methylation of CASP8 was associated with the patient's age and the tumor size. Methylation of TP73 was associated with hearing loss. RASSF1A methylation was inversely correlated with the clinical growth index. CONCLUSION: Aberrant methylation of tumor-related genes may play a role in the development of vestibular schwannomas. Our results may provide useful clues to the development of prognostic assays for these tumors.