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Endoscopic resection of invasive glomangiopericytoma following preoperative embolisation

We present a case of a 60-year-old woman with a 2-year history of nasal obstruction and unilateral recurrent epistaxis. Anterior rhinoscopy identified a unilateral hypervascular lobular mass occupying the entire left nasal cavity. Imaging studies documented an extensive soft tissue density lesion in the left nasal cavity with complete infiltration of the anterior ethmoid, limited indentation of the medial wall of the orbit, bone demineralisation of the cribriform plate and involvement of the anterior cranial fossa. The diagnosis of locally invasive glomangiopericytoma was obtained preoperatively through biopsy of the lesion, which resulted in a self-limited epistaxis that was easily controlled by nasal packing, confirming the vascular nature of the lesion. We discuss the diagnostic work up, imaging and surgical approach of this tumour, and review the recent literature on endoscopic treatment of these lesions.

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family

INTRODUCTION Hearing loss is the most common sensory disability and is present in about 1.9 per 1000 infants at birth. The DFNB1 locus (13q11-q12) includes the genes GJB2, coding for connexin 26, and GJB6, encoding connexin 30. More than 100 mutations have been identified associated with autosomal dominant and recessive hearing loss in the GJB2 gene. OBJECTIVES The aim of the present study was to identify the genetic aetiology of deafness in two Portuguese individuals, presenting nonsyndromic sensorineural moderate and severe hearing loss, respectively. PATIENTS AND METHODS The individuals were evaluated in both ears by pure tone audiometry and blood samples were collected after written informed consent was signed. DNA extraction and PCR amplification of GJB2 coding region followed standard methodologies. PCR products were automatically sequenced in both directions. RESULTS We identified a novel mutation, c.638T>A (p.Leu213X), in GJB2 gene. This nonsense mutation was found in both siblings, and was inherited from their hearing father. Molecular analysis showed that the two siblings were also heterozygous for c.333-334delAA, a previously described GJB2 deletion. This novel mutation was not found in a random control sample of 480 individuals that were screened for coding region of GJB2 gene. p.Leu213X mutation identified in this study for the first time changes the codon 213, coding for a highly conserved and slowly evolving residue of connexin 26, localised to the C-terminus domain of the protein, to a STOP codon, leading to the deletion of the last 14 amino acids of the protein. CONCLUSION We can conclude that the aetiology of deafness in these individuals is due to the GJB2 genotype involving the c.333-334delAA deletion and the novel p.Leu213X mutation in compound heterozygosity.

Predatory Publishing: An Industry that Is Threatening Science

1. Editor-in-Chief year 2017. AMP-Student. Lisbon. Portugal. 2. Medical Student. NOVA Medical School. Faculdade de Ciências Médicas. Lisbon. Portugal. 3. Editor-in-Chief year 2018. AMP-Student. Lisbon. Portugal. 4. Associate Editor. AMP-Student. Lisbon. Portugal. 5. Medical Student. Faculdade de Medicina. Universidade de Lisboa. Lisbon. Portugal. 6. Junior doctor. Centro Hospitalar Lisboa Central. Lisbon. Portugal. 7. Department of Otolaryngology. Egas Moniz Hospital. Centro Hospitalar de Lisboa Ocidental. Lisbon. Portugal. 8. NOVA Medical School. Faculdade de Ciências Médicas. Lisbon. Portugal.  Autor correspondente: Joana Revés. joanareves94@gmail.com Recebido: 17 de outubro de 2017 Aceite: 25 de janeiro de 2018 | Copyright

Diffusion Tensor Tractography of the Facial Nerve

Objective: 1) Demonstrate that preoperative diffusion tensor (DT) tractography can predict the displacement of the facial nerve in the vicinity of vestibular schwannomas. 2) Demonstrate that the course of the constructed tract consistently agreed with the surgical findings in most of the cases. Method: Prospective study of 15 patients undergoing surgical removal of vestibular schwannomas. The course of the facial nerve, determined preoperatively by diffusion tensor tractography using the method of Taoka et al was compared with the course of the nerve determined intraoperatively by microscopic inspection and using facial nerve monitoring equipment. Results: The displaced facial nerve was identified in 14 patients by diffusion tensor tractography in axial and coronal T1 post-gadolinium and equivalent tractography images. In 13 patients there was a precise correspondence between the course of the nerve determined preoperatively by diffusion tensor tractography and the course of the nerve found at surgery. In 1 patient the facial nerve was found anterior/cranial to the tumor while tractography seemed to depict an anterior/caudal course. Conclusion: Diffusion tension tractography of the facial nerve is a feasible technique that can consistently predict the displacement of the facial nerve in the vicinity of vestibular schwannomas. The technique can be used preoperatively to lower the risk of facial nerve injury during acoustic neuroma surgery.

Epidemiology of epistaxis in the emergency department of a southern European tertiary care hospital

OBJECTIVE Epistaxis is the most common rhinological emergency seen in the emergency department. The purpose of this study was to evaluate epidemiological data of epistaxis in a southern European tertiary care hospital. METHODS A retrospective study was conducted during the period between January 2009 and December 2015. We analyzed the distribution by cross-referencing the demographic variables, destination after medical discharge, inpatient characteristics (major comorbid diseases, medication, bleeding localization and treatment) and health-care costs with the disease. RESULTS Epistaxis accounted for approximately 1 in 30 visits to the ED and 77 out of a population of 100,000 was served by that ED. Overall, 71,624 patients were treated and 2371 patients presented with epistaxis (3.31%). One-thousand three-hundred and twenty-seven cases were male and 1044 female (p <.001). The mean age was 56 years (±26). Age distribution was bimodal, with peaks among those <10 years and >70 (p <.001). Epistaxis was more common in the winter months (p < 0.001). The main referral destinations (6.8%) included outpatient (2.9%) and inpatient (1.9%) services. Hospitalization was more frequent between the ages of 60 and 80 years (p =.029), and the major comorbidity was hypertension (47.8%). Medication interfering with haemostasis was documented in 30.4%. Most inpatient epistaxis was managed in a non-interventional manner and only. 5% of patients needed surgery. The mean total health-care cost was 69.8 € per episode. CONCLUSION Emergency epistaxis was more frequent in men, the elderly, patients with underlying comorbidities, during the winter months, and showed a higher risk of referral and hospitalization with increasing age (as a result of an aging population in western countries). The main hospital expenses for epistaxis are related to hospitalization and health care costs.

Radiofrequency for Treatment of Refractory Epistaxis in Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia is a rare multi-systemic autosomal dominant disorder characterized by dysplasia of the vascular connective tissue and recurrent bleeding tendency. Epistaxis is the most common and earliest symptom. It is usually mild to moderate, however, in some patients it can be severe with significant interference in quality of life. We report a case of a patient with hereditary hemorrhagic telangiectasia, in which an episode of refractory epistaxis was treated with radiofrequency and fibrin sealant. Control of acute bleeding and elimination of telangiectasia was possible with this technique. After six months follow-up, there was no epistaxis recurrence. Various treatments for epistaxis in this disease have been described in the literature, but there is no consensus about the gold-standard procedure. Radiofrequency ablation of telangiectasia is a recent technique that has shown to be safe, effective and well tolerated, even in patients who underwent other previous treatments.

Contralateral Occlusion Test: The effect of external ear canal occlusion on hearing thresholds

INTRODUCTION AND GOALS Bedside testing with tuning forks may decrease turnaround time and improve decision making for a quick qualitative assessment of hearing loss. The purpose of this study was to quantify the effects of ear canal occlusion on hearing, in order to decide which tuning fork frequency is more appropriate to use for quantifying hearing loss with the Contralateral Occlusion Test. METHODS Twenty normal-hearing adults (forty ears) underwent sound field pure tone audiometry with and without ear canal occlusion. Each ear was tested with the standard frequencies. The contralateral ear was suppressed with by masking. Ear occlusion was performed by two examiners. RESULTS Participants aged between 21 and 30 years (25.6±3.03 years) showed an increase in hearing thresholds with increasing frequencies from 19.94dB (250Hz) to 39.25dB (2000Hz). The threshold difference between occluded and unoccluded conditions was statistically significant and increased from 10.69dB (250Hz) to 32.12dB (2000Hz). There were no statistically significant differences according to gender or between the examiners. CONCLUSION The occlusion effect increased the hearing thresholds and became more evident with higher frequencies. The occlusion method as performed demonstrated reproducibility. In the Contralateral Occlusion Test, 256Hz or 512Hz tuning forks should be used for diagnosis of mild hearing loss, and a 2048Hz tuning fork should be used for moderate hearing loss.

Translation, Cultural Adaptation and Validation of the Satisfaction with Amplification in Daily Life Scale for European Portuguese

INTRODUCTION The scale Satisfaction with Amplification in Daily Life uses a simple and easily administered questionnaire to evaluate the adaptation of individuals to their hearing aids. The objective of this study is to validate the scale for European Portuguese speakers, by means of translation and cultural adaptation of the questionnaire. The study includes an evaluation of reproducibility and a description of the results of the administration of the questionnaire to patients fitted with hearing aids. MATERIAL AND METHODS We invited 147 individuals fitted with hearing aids (uni- or bilateral) to participate in the study. Participants had used a hearing aid for at least six weeks and were patients of the Department of Otolaryngology at the Egas Moniz Hospital (Lisbon). The consent as well the guidelines for translation from and into the English language were obtained from the author of the scale, and the translation from and into, and cultural adaptation were carried out, along with an evaluation of reproducibility and internal consistency. RESULTS The participants were 54% male and 46% female, aged between 16 and 93 (66.09 ± 17.41 years). The results of the study showed an overall level of satisfaction of 5.4 among hearing aids users. The sub-scale satisfaction levels were: positive effects 5.88, service and cost 5.25, negative effects 4.24, and self-image 5.57. The Cronbach α score was 0.75 which indicates good internal consistency. Furthermore, the questionnaires overall and sub-scale average scores did not differ significantly from the results obtained under the American scale. The inter-examiner reproducibility was also good. DISCUSSION This study provides reliable results of the scale for the Portuguese of Portugal and adequate internal consistency, with significant age variability in the sample. CONCLUSION This adaptation of the Satisfaction with Amplification in Daily Life questionnaire for European Portuguese speakers should be considered a good tool for evaluation of the level of satisfaction of hearing aid users, and until now, is the only available scale for speakers of European Portuguese.

Discharging mastoid cavity caused by necrosis of the modiolus.

overed by fascia temporalis. The patient was discharged fter 25 days. On follow-up, the patient developed a persistent disharging mastoid cavity that was maintained by several onths despite maximal medical treatment. Residual ntralabyrinthine disease was suspected. On investigaion, computed tomography and magnetic resonance ith diffusion-weighted imaging were performed but holesteatoma was not identified. Persistence of otorrhea

Operative Interventions for Clivus Osteoradionecrosis with CSF Leak following Stereotactic Radiosurgery for Nasopharyngeal Carcinoma

Objectives: Nasopharyngeal carcinoma (NPC) local recurrence still represents a major clinical challenge and a high mortality and morbidity cause. The authors report a case of a 44-year-old male with clivus osteoradionecrosis (ORN) and dural radionecrosis who presented with cerebrospinal fluid (CSF) leak, 6 months after a boost of stereotactic radiosurgery using gamma knife for the treatment of locally recurrent NPC, following conventional external beam radiotherapy (EBRT) with chemotherapy. Methods: A direct transnasal endoscopic-assisted approach with multiple reconstructive pedicled flap technique was used to achieve watertight dural reconstruction. Results: Despite CSF leak recurrence, after the second attempt we achieved a successful clivus reconstruction using a bilateral posterior pedicle inferior turbinate flap (PPITF). The reconstruction withstood a watertight seal for 1 month, until patient death from cardiopulmonary arrest as a result of ventilator-associated pneumonia. Conclusions: We recommend an early diagnosis and surgical intervention in the setting of clivus ORN. Local debridement of necrotic bone is critical for local nasal graft adherence and survival. The evidence of dural radionecrosis is a predictor of bad prognosis. As a result, broad dural defect exposition should be the standard procedure with the use of a multi-layered technique combined with vascularized pedicle flaps regardless of the dural tear dimension.