Vertical dorsal rhinotomy in pediatric nasal dermoid surgery.

INTRODUCTION AND OBJECTIVES: Nasal dermoids are uncommon midline congenital lesions in the nose, usually diagnosed in the first years of life. Imaging is mandatory to evaluate local and intracranial extension and treatment consists in surgical excision. This study aims to review the experience of the department in managing pediatric nasal dermoids using a dorsal rhinotomy surgical approach. MATERIAL AND METHODS: Retrospective case series of pediatric nasal dermoids treated at a tertiary university teaching hospital over a period of seven years. RESULTS: Nine children were treated during this period. Clinical presentation was a dermoid sinus-cyst in seven cases and a cystic lesion in two. Pre-operative imaging revealed extension of the lesion to the foramen cecum in three cases. Surgery was performed via vertical dorsal rhinotomy in all patients, and associated endoscopic surgery was used in three patients. Reconstruction with autologous material was performed in three cases. No complications or recurrences were registered during the follow-up. CONCLUSIONS: In the presented series, a vertical dorsal rhinotomy incision has provided good functional and aesthetic results. The possibility of nasal dermoid intracranial extension should be accessed with imaging but remains uncommon. In its absence, this approach may be useful and can be paired with other techniques, such as nasal endoscopy, to achieve the best outcomes.

Comparison of Clinical and Pathological Staging in Patients with Head and Neck Cancer After Neck Dissection.

Introduction Clinical and pathological staging plays an important role on the prognosis of head and neck cancer (HNC) patients. Objective The present study aims to compare clinical and pathological T, N and overall staging in patients with HNC, to identify factors associated with these discrepancies, and to analyze and compare survival or disease-free survival in staging disagreements. Methods Retrospective cohort including every patient submitted to neck dissection from January 2010 to December 2020 in the department of Otorhinolaryngology of a tertiary hospital center. Results A total of 79 patients were analyzed; their mean age was 58.52 ± 13.15 years old and 88.9% were male. Assessing overall staging, discrepancies were noted in 53% (36.4% upstaging and 16.6% downstaging) and were significantly associated with clinical overall staging ( p = 0.006). Regarding T staging, differences were noted in 45.5% (30.3% upstaging and 15.2% downstaging) and were significantly associated with imaging modality ( p = 0.016), clinical T staging ( p = 0.049), and histology ( p = 0.017). Discrepancies in N staging were noted in 38% (25.3% upstaging and 12.7% downstaging) and were significantly associated with age ( p = 0.013), clinical N staging ( p < 0.001), and presence of extranodal invasion ( p < 0.001). Both in Overall, T, and N staging, the aforementioned disagreements were not associated with either higher mortality or higher disease relapse. Conclusion Overall, T, and N staging disagree in an important number of cases, and the overall stage can disagree in up to 53% of the cases. These disagreements do not seem to influence overall and disease-free survival.

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital.

Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans-disciplinary team of a tertiary hospital. A total of 672 OFCs were identified: 40.9% isolated cleft palate, 38.1% cleft lip and palate, 19.7% cleft lip and 1.3% atypical cleft; 57.1% were male. The prevalence of family history was 26.0% of which 30.9% had a recognizable syndrome. Of those born before 2001, 13.7% had prenatal diagnosis; of those born between 2001 and 2007, 32.6% orofacial clefts were diagnosed in utero; and in children born after 2007, prenatal diagnosis increased to 47.1%. In our study, about one-fourth of children had a positive family history. Since the implementation of universal ultrasound screening in Portugal, more orofacial clefts were identified in utero (42.5% vs. 13.7%; p < 0.05) and after the availability of advanced ultrasound, prenatal diagnosis increased to 47.1% (vs. 20.4% before 2007; p < 0.05). Of all orofacial clefts diagnosed prenatally, ultrasound revealed more accuracy for the diagnosis of cleft lip and palate (65.4%) and cleft lip (24.8%). Cleft palate is the most difficult to detect in utero (9.3%). Prenatal ultrasound screening in Portugal has technically evolved with consequent better diagnostic accuracy for the identification of orofacial clefts, allowing better parenteral counseling.

Comparison of Clinical and Pathological Staging in Patients with Head and Neck Cancer After Neck Dissection

Abstract Introduction Clinical and pathological staging plays an important role on the prognosis of head and neck cancer (HNC) patients. Objective The present study aims to compare clinical and pathological T, N and overall staging in patients with HNC, to identify factors associated with these discrepancies, and to analyze and compare survival or disease-free survival in staging disagreements. Methods Retrospective cohort including every patient submitted to neck dissection from January 2010 to December 2020 in the department of Otorhinolaryngology of a tertiary hospital center. Results A total of 79 patients were analyzed; their mean age was 58.52 ± 13.15 years old and 88.9% were male. Assessing overall staging, discrepancies were noted in 53% (36.4% upstaging and 16.6% downstaging) and were significantly associated with clinical overall staging (p = 0.006). Regarding T staging, differences were noted in 45.5% (30.3% upstaging and 15.2% downstaging) and were significantly associated with imaging modality (p = 0.016), clinical T staging (p = 0.049), and histology (p = 0.017). Discrepancies in N staging were noted in 38% (25.3% upstaging and 12.7% downstaging) and were significantly associated with age (p = 0.013), clinical N staging (p < 0.001), and presence of extranodal invasion (p < 0.001). Both in Overall, T, and N staging, the aforementioned disagreements were not associated with either higher mortality or higher disease relapse. Conclusion Overall, T, and N staging disagree in an important number of cases, and the overall stage can disagree in up to 53% of the cases. These disagreements do not seem to influence overall and disease-free survival.

Prognostic Role of the Initial Grade of Dysplasia on Premalignant Vocal Fold Lesions.

PURPOSE: The main objective of this study was to analyze the prognostic role of the initial grade of dysplasia on the progression to SCC. STUDY DESIGN: Retrospective cohort. METHODS: This study was performed in the Otorhinolaryngology Department of a tertiary hospital center from January 2010 to December 2020. Every patient submitted to a microlaryngoscopy during this period with a histology of dysplasia on the first biopsy was included. RESULTS: A total of 112 patients were included and median follow-up was 24 months (range 1-120 months). Mean age at diagnosis was 59.71 (+/- 12.03) and 88 patients were male (78.6%). Initial grade of dysplasia was mild on 60 patients (53.6%), moderate on 24 (21.4%), severe on 18 (16.1%), and carcinoma in situ in 10 (8.9%). Overall, 25 patients (21.4%) developed invasive squamous cell carcinoma (SCC) and 15 (13.4%) died during follow-up. On an adjusted 5 year's progression free survival analysis, considering gender, age, dysplasia grade, tobacco and alcohol consumption, the initial grade of dysplasia was the only factor significantly associated with progression to carcinoma (P = .047). When compared to mild dysplasia, moderate dysplasia had a Hazard Ratio (HR) of 0.81 (95%CI 0.21-3.22); severe dysplasia had a HR of 1.76 (95%CI 0.59-5.30) and carcinoma in situ had a HR of 4.25 (95%CI 1.44-12.59). CONCLUSION: The initial dysplasia grade seems to be the most important prognostic factor regarding progression to SCC in patients with premalignant vocal fold disease.

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of variants. Patients with either nonsyndromic or syndromic SNHL were included. Also, patients were previously screened for variants in the GJB2 gene and for duplications/deletions in the GJB6 gene. Causative variants in 11 different genes were identified in 15 (21.1%) out of 71 probands, 5 of which had associated syndromes. In 6 other patients (8.5%), presumptive causative variants were identified in MYO15A, TMIE, TBC1D24, SPMX, GJB3, PCDH15, and CDH23 genes, uncovering a potential case of digenic Usher syndrome. The study was inconclusive in 20 probands (28.2%), in 19 due to lack of segregation analysis and in one due to uncertain phenotype-genotype matching. In the remaining 30 patients (42.3%) no potentially causative variants were identified. The diagnostic yield did not significantly vary according to the age of hearing-impairment onset. As the first study on the application of NGS technologies in SNHL based on a Portuguese cohort, our results may contribute to characterize the spectrum of variants related to SNHL in the Portuguese population. Additionally, the present study provides new insights into the contribution of MYO3A, TECTA, EDNRB, TBC1D24, and GJB3 genes to SNHL. For the significant number of undiagnosed patients, reanalysis of WES data - either for a broader gene panel or in a non-targeted approach - may be considered.

Actinomyces and Shewanella algae complicated paediatric mastoiditis: a case report of a multidisciplinary approach.

Cerebral venous sinus thrombosis in children is a rare complication of acute mastoiditis that can potentially be fatal. Clinical expertise is essential for early diagnosis and management due to its subtle course. We present the first known case of paediatric acute mastoiditis with venous sinus thrombosis caused by Shewanella algae and Actinomyces europaeus . A 17-year-old male presented clinical signs of right acute otitis media and mastoiditis. Brain computed tomography showed mastoid opacification, cerebral sinus thrombosis and an extradural collection. Microbiology revealed the presence of S. algae and A. europaeus . A multidisciplinary approach combining medical and surgical treatment allowed the patient to make a full recovery.

GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.

INTRODUCTION: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients. MATERIAL AND METHODS: In order to select the less common GJB2 variants, 147 hearing-impaired patients followed in Centro Hospitalar Universitário de São João were evaluated. Afterwards, the presence of those variants was tested in 360 individuals from Generation 21. RESULTS: The patient assessment enabled the selection of 11 GJB2 variants. Of those, 10 were investigated in Generation 21 participants, with only four being detected, in heterozygosity: p.Phe83Leu, p.Arg127His, p.Val153Ile and p.Asn206Ser, with the allelic frequencies (95% confidence interval) of 0.14% (0.01% - 0.87%), 0.28% (0.01% - 1.08%), 0.97% (0.43% - 2.04%) and 0.14% (0.01% - 0.88%), respectively. Two variants, p.Val37Ile and p.Val95Met, were more frequent in the patients' group with statistical significance. DISCUSSION: Our results allow for the p.Arg127His and p.Val153Ile variants to comply with polymorphism criteria and support the pathogenicity of p.Val37Ile and p.Val95Met variants. Moreover, two cases of moderate hearing loss were explained by the p.Val37Ile/p. Asn206Ser genotype, substantiating both the pathogenicity of such variants and the hypothesis that compound heterozygosity with p.Ans206Ser is associated with mild-moderate genotypes. CONCLUSION: Understanding the role of the variants is essential in order to provide genetic counselling to patients and their families. We explored a set of uncommon GJB2 variants that comprised 12% of the hearing-impaired patients in this study, supporting the relevance of their description.

Introdução: As mutações no gene GJB2 são responsáveis por mais de 50% dos casos de hipoacusia neurossensorial não sindrómica na população caucasiana. Neste estudo, reporta-se a frequência das variantes menos comuns do gene GJB2 numa amostra da população portuguesa, comparando-se com a dos doentes com hipoacusia seguidos na consulta de Genética. Material e Métodos: Para seleção das variantes menos frequentes do gene GJB2, avaliaram-se 147 doentes com hipoacusia seguidos na consulta de Genética ­ Doenças Hereditárias do Ouvido do Centro Hospitalar Universitário de São João. A presença dessas variantes foi depois testada em 360 indivíduos da Geração 21. Resultados: A avaliação dos doentes com hipoacusia permitiu selecionar 11 variantes. Dessas, 10 foram pesquisadas nos indivíduos da Geração 21, identificando-se apenas quatro, em heterozigotia: p.Phe83Leu, p.Arg127His, p.Val153Ile e p.Asn206Ser, com frequências alélicas (intervalo de confiança 95%) de 0,14% (0,01% - 0,87%), 0,28% (0,01% - 1,08%), 0,97% (0,43% - 2,04%) e 0,14% (0,01% - 0,88%), respetivamente. Duas variantes, p.Val37Ile e p.Val95Met, mostraram-se mais frequentes nos doentes com hipoacusia de forma estatisticamente significativa. Discussão: Estes resultados permitem considerar as variantes p.Arg127His e p.Val153Ile como polimorfismos e apoiam a patogenicidade das variantes p.Val37Ile e p.Val95Met. Note-se ainda que dois casos de hipoacusia moderada foram justificados pelo genótipo p.Val37Ile/p.Asn206Ser, apoiando a patogenicidade de tais variantes e corroborando a hipótese de que heterozigotias compostas com a p.Asn206Ser cursam com fenótipo ligeiro-moderado. Conclusão: O conhecimento da patogenicidade das variantes é fundamental para o aconselhamento genético dos doentes e respetivas famílias. No seu conjunto, as variantes do gene GJB2 analisadas estavam presentes em 12% dos doentes, reiterando a relevância do seu estudo.

Subannular Tubes in Children With Cleft Palate.

OBJECTIVE: To investigate subannular tube (SAT) placement as an alternative treatment of chronic middle ear disease in children with cleft palate. DESIGN: Retrospective cohort study. PARTICIPANTS: All children with cleft palate with intractable otitis media with effusion and/or with tympanic membrane retraction, operated for insertion of 1 or more sets of transtympanic tubes followed by SAT in a tertiary center. MAIN OUTCOME MEASURES: Audiological outcomes, average duration of tubes, and postoperative complications were analyzed. RESULTS: This study included 21 children with cleft palate, aged 3 to 14 years. A total of 38 ears was evaluated. The median time of follow-up was 42 months. During follow-up, 69.2% of the patients had no complications. Observed complications were otorrhea (13.5%) and tube obstruction (7.7%). In 7.9% of the cases, otitis media with effusion relapsed after tube extrusion. By the end of the study, 76.3% of the tubes remained in situ and 68.4% of the tympanic membranes had the SAT in place and had no significant alterations. The mean duration of SATs was 16 months, which was significantly superior to transtympanic tube duration. A significant sustained improvement in the hearing of children with SATs was observed. CONCLUSION: Subannular tube insertion results in hearing improvement to normal range and tympanic retraction pockets reversion in children with cleft palate with persistent otitis media with effusion and tympanic retraction/atelectasis. This surgery appears to be safe and provides long-term efficient middle ear aeration. Strict postoperative follow-up is crucial for the success of the treatment.

Risk factors for the occurrence of epistaxis: Prospective study.

OBJECTIVE: Analyse and compare the characteristics of patients with epistaxis admitted to the otolaryngology emergency department with those provided by a control group. Establish a model to identify epistaxis predictive factors. METHODS: Prospective analysis of 283 consecutive adults, admitted to the otolaryngology emergency department of a tertiary referral centre between 25 January and 25 February 2014. Comparison of gender, age, co-morbidities, usual medication, history of epistaxis or nasal trauma, presence of septal deviation and blood pressure value on admission, between the elements that were admitted to the emergency due to epistaxis (group 1) and a group composed of patients with other symptoms (group 2). Intergroup variations were analyzed using t student and chi-square tests. Multivariate logistic regression and a receiver operating characteristic curve were used to establish a predictive model and test its suitability. RESULTS: Male gender (OR=2.57, 95% CI 1.1-6.0, p=0.029), older age (OR=1.03, 95% CI 1.0-1.1, p=0.002), existence of peripheral vascular disease (OR=13.47, 95% CI 1.9-95.3, p=0.009), cardiovascular disease (OR=3.91, 95% CI 1.6-9.7, p=0.003) and previous history of epistaxis (OR=5.53, 95% CI 2.5-12.1, p<0.001) were predictors of epistaxis when adjusted for the presence of elevated blood pressure, history of hypertension, cerebrovascular disease and chronic use of anticoagulants or antiplatelet drugs. The model revealed a good applicability (area under the curve of 0.852). CONCLUSIONS: The only predictive factors of admission to the emergency department due to epistaxis were male gender, older age, peripheral vascular disease, cardiovascular disease and history of epistaxis.

Acute pediatric neck infections: Outcomes in a seven-year series.

OBJECTIVES: The aim of this study was to analyse the epidemiology, clinical presentation, diagnostic clues, as biochemical parameters and imaging studies, of children with acute neck infections (ANI) to identify possible independent prognostic factors leading to complications and prolonged hospitalization. METHODS: Records of children admitted to a tertiary university hospital from January 2008 to December 2014 with a diagnosis of ANIs were reviewed retrospectively. Diseases were categorized according to the site of infection and patients were divided into two groups: children (aged<10 years) and adolescents (aged 10-18 years). RESULTS: A total of 102 patients belonged to the children's group and 57 were adolescents. Forty-nine patients (27.2%) received antibiotics prior to presentation. The most frequent ANI was peritonsillar abscess (n = 72). Four peritonsillar abscesses progressed to parapharyngeal and retropharyngeal abscesses (n = 2 respectively). An association between age and type of abscess was found, with most of the retropharyngeal abscesses occurring in children (p = 0.05), and the submandibular abscesses in adolescents (p < 0.001). The most frequent symptoms/signs were fever (63.9%) and odynophagia (50.6%). Upon admission, all patients received intravenous antibiotics and 86.8% underwent drainage of the abscess. Cultures were harvested in 87 abscesses and the most frequent pathogen isolated was Streptococcus pyogenes. Signs of airway obstruction occurred in two patients with submandibular abscess, one with peritonsillar and one with parapharyngeal abscess. There were no cases of death or severe sequelae. Recurrent ANIs were observed in eight patients including two infected branchial cysts. Children, presence of multiple abscesses and palpable cervical mass on admission, absence of odynophagia and pharyngeal bulging, surgery with general anaesthesia and surgery after 24 h, were associated with prolonged hospitalization. Presence of toothache and neck pain on admission were identified as predictors of complications. CONCLUSIONS: The present study found, that often, the diagnosis and treatment of neck abscesses in paediatric patients is not straightforward, but can achieve a favourable outcome. The primary location of the ANI appears to vary in different paediatric age groups. Younger age, presence of multiple abscesses or a palpable cervical mass on admission, were associated with prolonged hospitalization. Presence of toothache and neck pain on admission was identified as possible predictors of complications.

Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families.

OBJECTIVE: The purpose of this work was to characterize the Met34Thr variant in a group of patients with nonsyndromic hearing loss, in order to establish a genotype-phenotype correlation. METHODS: 13 cases from 4 unrelated Portuguese families were selected, in which one or more hearing-impaired members had Met34Thr variant. RESULTS: Met34Thr variant was identified in 11/13 cases. Two cases have an additional mutation - Val153Ile and 35delG. Hearing loss was mild in 2 patients (Met34Thr/Val153Ile; Met34Thr/Met34Thr), moderate in 3(Met34Thr/WT; Met34Thr/35delG; Met34Thr/Met34Thr), severe in 2 (2 Met34Thr/WT) and profound in 1 (Met34Thr/WT). Three individuals with Met34Thr had normal hearing thresholds. CONCLUSION: The present data corroborate the hypothesis that the Met34Thr variant is associated with mild-to-severe forms of deafness and that this variant seems to segregate with a dominant hearing loss with incomplete penetrance and a variable expression of the phenotype. However, other factors are likely to also have a pathologic effect.

The Portuguese version of the RhinoQOL Questionnaire: validation and clinical application, / Versão portuguesa do Questionário RhinoQOL: validação e aplicação clínica

ABSTRACT INTRODUCTION: Rhinosinusitis constitutes an important health problem, with significant interference in personal, professional, and social functioning. This study presents the validation process of the Portuguese version of the RhinoQOL, to be used as a routine procedure in the assessment of patients with chronic rhinosinusitis. OBJECTIVE: To demonstrate that the Portuguese version of the RhinoQOL is as valid as the English version to measure symptoms and health-related quality of life in chronic rhinosinusitis. METHODS: The Portuguese version of the RhinoQOL was administered consecutively to 58 patients with chronic rhinosinusitis with and without nasal polyps, assessed for endoscopic sinus surgery. A follow-up survey was completed three months after surgery. Statistical analysis was performed to determine its psychometric properties. RESULTS: Face and content validity were confirmed by similar internal consistency as the original questionnaire for each sub-scale, and strong correlation between individual items and total score. The questionnaire was easy and quick to administer (5.5 min). At three months, there was a significant decrease from baseline for all sub-scale scores, indicating clinical improvement, with an effect size considered as large. CONCLUSION: This study provides a questionnaire that is equivalent to the original English version, with good responsiveness to change, which can be especially valuable to measure the outcome of surgery.

RESUMO INTRODUÇÃO: A rinossinusite constitui um importante problema de saúde, com interferência significante na vida pessoal, e sócio-profissional dos pacientes. Este estudo apresenta o processo de validação da versão do RhinoQOL na língua portuguesa para ser usado em pacientes portadores de rinossinusite crônica. OBJETIVO: Demonstrar que a versão do RhinoQOL na língua portuguesa é tão válida quanto a versão inglesa na medição dos sintomas e qualidade de vida dos pacientes com rinossinusite crônica. MÉTODO: A versão em português do RhinoQOL foi aplicada consecutivamente a 58 pacientes com rinossinusite crônica, com e sem pólipos nasais, previamente à cirurgia endoscópica nasal, tendo sido reavaliados aos 3 meses de pós-operatório. Análise estatística foi realizada para determinar as suas propriedades psicométricas. RESULTADO: A validade de conteúdo foi confirmada por uma consistência interna similar à do questionário original, para cada sub-escala, e por uma forte correlação entre cada item e o score total. A aplicação do questionário foi fácil e rápida (5,5 min). Aos 3 meses, verificou-se uma redução significativa dos scores de todas as sub-escalas, indicando melhoria clínica, com um tamanho de efeito considerado grande. CONCLUSÃO: Este estudo fornece um questionário que é equivalente à versão original, com boa sensibilidade à mudança, o que pode ser especialmente útil na medição do impacto da cirurgia.

The Portuguese version of the RhinoQOL Questionnaire: validation and clinical application.

INTRODUCTION: Rhinosinusitis constitutes an important health problem, with significant interference in personal, professional, and social functioning. This study presents the validation process of the Portuguese version of the RhinoQOL, to be used as a routine procedure in the assessment of patients with chronic rhinosinusitis. OBJECTIVE: To demonstrate that the Portuguese version of the RhinoQOL is as valid as the English version to measure symptoms and health-related quality of life in chronic rhinosinusitis. METHODS: The Portuguese version of the RhinoQOL was administered consecutively to 58 patients with chronic rhinosinusitis with and without nasal polyps, assessed for endoscopic sinus surgery. A follow-up survey was completed three months after surgery. Statistical analysis was performed to determine its psychometric properties. RESULTS: Face and content validity were confirmed by similar internal consistency as the original questionnaire for each sub-scale, and strong correlation between individual items and total score. The questionnaire was easy and quick to administer (5.5min). At three months, there was a significant decrease from baseline for all sub-scale scores, indicating clinical improvement, with an effect size considered as large. CONCLUSION: This study provides a questionnaire that is equivalent to the original English version, with good responsiveness to change, which can be especially valuable to measure the outcome of surgery.

Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.

OBJECTIVE: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. METHODS: 502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of "Hereditary Hearing-loss" in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss. RESULTS: Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03-3.68) and 1 homozygous (95% Confidence Interval 0.01-1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03-3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11-12.8) were heterozygous and 7 (95% Confidence Interval 3.61-15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13-8.31) and 2 homozygous (95% Confidence Interval 0.13-8.31). CONCLUSION: The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss.

Prevalence of nasal polyps in Northern Portugal: a cadaver endoscopic study.

BACKGROUND: Epidemiological studies on chronic rhinosinusitis with nasal polyps are scarce and mostly based on questionnaires. Data obtained with such approaches can be unreliable, thus endoscopy is a prerequisite for an accurate estimate of the prevalence of nasal polyps. The objective of this study was to establish the frequency of nasal polyps in Northern Portugal, using nasal endoscopy in cadavers from a District Hospital. METHODS: The cadaver specimens deposited in the mortuary room of the hospital, every early morning on week days, from December 2012 to August 2013, were submitted to a systematic endoscopic examination of both nasal cavities, using a 25°, 2.y mm rigid endoscope from R.Wolf®. A review of the medical record of the cadavers was done, to search for cause of death, co-morbidities and past ENT history. RESULTS: A group of 200 consecutive Caucasian cadaver specimens were analyzed, 83 women and 117 men, with a mean age of death of 77.23 ± 12.29 years (range 34-97). The prevalence of nasal polyps was 5.5% (95% confidence interval, 2.34-8.66). No statistically significant association between the studied clinical variables (sex, allergic rhinitis, lower respiratory diseases and smoking) and the presence of nasal polyps was identified. CONCLUSION: The study provides the first endoscopic based epidemiological data on nasal polyps in Portugal, showing a prevalence for old age group in accordance with previous studies in Europe.

Temporal intradiploic dilative vasculopathy: an additional pathogenic factor for the hearing loss in fabry disease?

Fabry disease (FD) is caused by progressive accumulation of neutral glycosphingolipids, including in ganglion neural and vascular endothelial cells, as a result of lysosomal α-galactosidase deficiency. High frequencies progressive sensorineural hearing loss (HL), sudden deafness, tinnitus and dizziness are otological symptoms frequently reported.A 45-year-old man with FD, on haemodialysis since age 25, complaining of progressive HL, was started on enzyme replacement therapy (ERT) because of cardiac complications. A bilateral sloping sensorineural HL was found at baseline audiological evaluation. Computed tomography of the ears showed enlargement of the intradiploic vascular channels, principally in the petrous bone. The magnetic resonance angiography showed elongation and ectasia of the middle cerebral arteries and the arteries of the Circle of Willis, particularly the internal carotid and the basilar arteries. Follow-up audiological evaluations documented progressive worsening of HL, mainly in the high frequencies range, despite high dose ERT and evidence of cardiac improvement.The intradiploic vascular abnormalities of the temporal bones reported herein have never been described in association with FD and may have contributed to the pathogenesis of progressive HL, by a 'stealing' effect upon the cochlear blood supply (like in cavernous haemangioma of the internal auditory meatus), in addition to the other mechanisms of ischaemic injury to the Organ of Corti described in FD. This clinical observation shows the value of comprehensive neuroimaging investigation of HL in FD and emphasizes the importance of early institution of specific therapy, before the occurrence of irreversible inner ear lesions and hearing damage.