Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.

CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients with molecularly confirmed CNGB1-related RP were included. All patients underwent a complete ophthalmological examination complemented by psychophysical olfactory evaluation. Fifteen patients (10 families: 8 Portuguese, 1 French, and 1 Turkish), mean aged 57.13 ± 15.37 years old (yo), were enrolled. Seven disease-causing variants were identified, two of which are reported for the first time: c.2565_2566del and c.2285G > T. Although 11/15 patients reported onset of nyctalopia before age 10, diagnosis was only established after 30 yo in 9/15. Despite widespread retinal degeneration being present in 14/15 probands, a relatively preserved visual acuity was observed throughout follow-up. Olfactory function was preserved in only 4/15 patients, all of whom carried at least one missense variant. Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing variants in the CNGB1 gene and expands the mutational spectrum of CNGB1-related disease by reporting two novel variants.

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 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.