Endoscopic and External Dacryocystorhinostomy: Long Term Result from a Tertiary Center in Portugal.

Dacryocystorhinostomy is the gold-standard for distal lacrimal obstructions. This study aims to report the demography, clinical presentation, influence of agger nasi opening, uncinectomy and septoplasty, the use of silicone stent tubes, complications and success of endoscopic and external dacryocystorhinostomy over a period of 11 years. Retrospective review of clinical records, from January 2012 to December 2022, at a tertiary center in Portugal. A total of 249 procedures, 6 external and 243 endoscopic, were performed, including 39 revision cases. There was a female predominance (79.9%) with a mean age at diagnosis of 66.4 years. Recurrent acute dacryocystitis, reported by 33.3%, was associated with higher success (p = 0.053). Agger nasi opening, uncinectomy and septoplasty were performed in 17.7%, 6.0% and 15.3% respectively, although associated with higher success rates, no statistically significant difference was found. Minor complication rates for both external and endoscopic approach was 33.3% and 32.1% respectively. Functional and anatomical success was 100% and 83.3%, respectively, for external dacryocystorhinostomy, and 91.4% and 85.1%, respectively, for endoscopic dacryocystorhinostomy. Revision surgery was associated with a worse anatomical success (p = 0.05). Endoscopic dacryocystorhinostomy is an effective and safe alternative to the external approach. Minor procedures can increase the success rate, but multicentre studies need to be performed for a statistically significant result.

Relationship between the Presence of Nystagmus in the Fourth Position of the Epley Maneuver and Treatment Efficacy for PSC BPPV: A Prospective Study.

OBJECTIVE: To investigate whether a specific nystagmus observed during the Epley maneuver can enable immediate reassessment of patients, eliminating the need for deferred diagnosis. STUDY DESIGN: Prospective cohort. SETTING: Tertiary center. PATIENTS: Patients with posterior semicircular canal (PSC) benign paroxysmal positional vertigo (BPPV) diagnosed by the Dix-Hallpike test between March 2022 and March 2023. INTERVENTIONS: All patients were treated with the Epley maneuver. The presence and the characteristics of the nystagmus were recorded in each of the four intermediate positions of the maneuver. Fifteen minutes later, all patients were reevaluated with the Dix-Hallpike test to determine the therapeutic success. MAIN OUTCOME MEASURES: Outcome of the Epley maneuver and its relationship with nystagmus characteristics during the four positions of the maneuver. RESULTS: Sixty-six patients (77.3% female) were included in the study, of which 66.7% exhibited right PSC BPPV. Therapeutic success of the first Epley maneuver was 74.2%. Almost one third (30.3%) of patients presented with nystagmus in the second and third positions of the Epley maneuver. All patients with down-beating and torsional nystagmus toward the opposite direction of the diagnostic nystagmus in the fourth position of the Epley maneuver needed a second rehabilitative maneuver. None of the patients without nystagmus in this fourth position remained with active BPPV after the first Epley maneuver. CONCLUSIONS: The presence of nystagmus in the fourth position of the Epley maneuver appears to have a high predictive value, reducing waiting time for a second diagnostic maneuver. Its absence may exempt subsequent reevaluation.

Teriflunomide treatment outcomes in multiple sclerosis: A Portuguese real-life experience.

Teriflunomide is an oral disease-modifying therapy for relapsing-remitting multiple sclerosis patients. A decline in physical and cognitive functions, which negatively impacts their quality of life (QoL), is observed in relapsing-remitting multiple sclerosis patients. The aim of this study was to characterise adult Portuguese relapsing-remitting multiple sclerosis patients treated with teriflunomide in routine clinical practice concerning their quality of life, comorbidities, treatment effectiveness, satisfaction, compliance and safety. TeriLIVE-QoL was a multicentre, non-interventional, prospective cohort study that collected demographic and clinical characteristics, patient-reported outcomes and adverse events from patients treated with teriflunomide of 14 mg over 2 years. Notably, around 18 months of this period occurred during the COVID-19 pandemic. Of the 99 participants, 25% were treatment-naïve. Annualised relapse rate and the score for the Hospital Anxiety and Depression Scale decreased after 1 (p = 0.01) and 2 years of treatment (p < 0.001), respectively. Convenience (p = 0.001), effectiveness (p = 0.002) and global satisfaction scores (p < 0.001) presented high values (up to 95.6) and continued to improve along the study. Treatment persistence was 77%, and compliance reached 82% 2 years after initiation. Three patients experienced serious adverse events. TeriLIVE-QoL provides real-world evidence of clinical effectiveness, high treatment satisfaction, consistent safety and improved psychiatric outcomes, associated with elevated treatment persistence and compliance in patients treated with teriflunomide.iance reached 82% 2 years after initiation. Three patients experienced serious adverse events.

Radioanalytical models applied to the investigation of caesium signatures in sugar samples.

The presence of anthropogenic radioisotopes in the environment may be due to inappropriate discards, nuclear tests and accidents, which requires and justifies constant monitoring to ensure the safety of nuclear applications. The radiometric analysis is a necessary condition for exporting sugar for world consumption. The investigation of 134Cs and 137Cs in a sugar matrix is required to predict radiometric anomalies. This work aimed to standardise a semi-empirical radiometric model to characterise and quantify caesium isotopes in sugar. The research was carried out with high-resolution gamma spectrometry, a non-destructive method. The results were applied to the analysis of different types of sugar for export. The models allowed us to determine with excellent resolution the minimum quantifiable activities of 0.74 Bq kg-1 and 0.48 Bq kg-1 for 134Cs and 137Cs, respectively, which are lower than 600 Bq kg-1, reference values adopted by the EU for isotopes in food.

Visual word form area hyperexcitability associated with focal epileptiform activity in a case of reading epilepsy

Reading epilepsy recruits critical language-related areas, with synchronization and subsequent spreading of excitation in response to the epileptogenic stimulus. The mechanism by which possible generalized discharges result in the expression of bilateral or unilateral clinical symptoms remains controversial. The cortical and subcortical areas involved may constitute part of the normal reading network, such as the visual word form area (VWFA). A right-handed, 59-year-old man was diagnosed with epilepsy at the age of 15 after tonic-clonic seizures. Later, the patient described myoclonic jerks of the masticatory and perioral muscles while reading. A multimodal approach with magnetic resonance imaging and ambulatory and video-electroencephalogram was used for seizure characterization and source analysis. A left hemisphere spontaneous occipital-temporal epileptic focus, activated by reading, was observed, spreading broadly throughout frontal and temporal language networks. There was an abnormally increased cortical response to visual word presentation in comparison to pseudowords. Spatial localization of spike sources suggested a close association between the primary epileptic focus and the VWFA. This epileptiform activity seems to be selectively triggered at an early stage of lexical processing, with a functional connection between the epileptic network and the VWFA. This multimodal and functional connectivity approach could be helpful in determining the epileptic network in reading epilepsy.

Determination of the internal dose due to the intake of 226Ra and 210Pb in drinking water from deep wells in the Metropolitan Region of Recife-Brazil.

The Metropolitan Region of Recife, the capital of the state of Pernambuco in northeastern Brazil, has a high demographic density and developed under a region of marine phosphorus with high concentrations of phosphate that naturally contains uranium ore, producing ionizing radiation from descendants of the radioisotope 238U where 226Ra and 210Pb are of great importance in verifying the probable harmful effects on human health due to environmental radioactivity. The supply of drinking water is the responsibility of the state-owned company COMPESA which uses wells of great depth to complete the supply of drinking water for the entire population. COMPESA and the RAE Group of the Federal University of Pernambuco developed a joint project to assess the concentrations of 226Ra and 210Pb and estimate the equivalent and effective doses caused by ingesting these radiation sources. According to the above, this research aimed to evaluate concentrations of 226Ra and 210Pb in drinking water samples from 110 deep wells in Recife. The activities of 226Ra and 210Pb ranged from 1.4 ± 0.3 to 119.3 ± 12.9 and from 25.6 ± 3.3 to 563.2 ± 45.6 mBq.L-1, with arithmetic means of 48.1 ± 3.8 and 231.1 ± 20 mBq.L-1, respectively. The equivalent doses average in bone tissue due to 226Ra and 210Pb were 0.45 ± 0.04 and 3.9 ± 0.37 mSv.y-1, and the annual average effective doses were 0.01 ± 0.00 and 0.13 ± 0.01 mSv.y-1, respectively.

Influx of radioactive gas in norm occurrences in Northeastern Brazil.

Radon and progeny are potentially relevant in radioecological studies, as they contribute more than half of the exposure to environmental radiation. The investigation of 222Rn in internal environments of municipalities of Paraíba and Rio Grande do Norte in Brazil was carried out using passive dosimetry with α Espec-222, installed in environments selected by the history of natural radiative occurrences. The monitoring time was eight months to consider seasonal influence. Concentrations from 26.91 to 316.35 Bq m-3 were obtained, with a maximum effective dose of almost 8 mSv y-1. The influence on households exceeds, by almost 31%, the average obtained for occupational environments. The municipalities of Paraíba presented higher results for Rn, with an average of almost 176 Bq m-3 and an effective dose greater than 4 mSv y-1. The application of individual occupancy factors for home and work environments made it possible to combine the dosimetric models, making the scenario closer to the real exposure of individuals who work and reside in the same municipality, with a dosimetric response of 21.45% lower than the model used worldwide. The different scenarios applied allowed expanding the radiometry of the environments, generating a database that precedes studies of environmental and radioecological impacts, strengthening security and enabling new works to interpret public health problems in search of joint and shared solutions.

[Translation, Cultural Adaptation and Contributions to the Validation of the Nijmegen Cochlear Implant Questionnaire (NCIQ) for European Portuguese]. / Tradução, Adaptação Cultural e Contributos para a Validação da Escala Nijmegen Cochlear Implant Questionnaire (NCIQ) para o Português Europeu.

INTRODUCTION: The Nijmegen Cochlear Implant Questionnaire (NCIQ) scale uses a simple and easily administered questionnaire to evaluate the adaptation of individuals to their cochlear implants. The aim of this study was to validate the NCIQ for European Portuguese, through its translation and cultural adaptation. It also presents the evaluation of reproducibility and the description of the results of this questionnaire in patients using IC. MATERIAL AND METHODS: Fifty postlingually deaf adult multichannel cochlear implant users (uni- or bilateral) participated in the study. Participants used the cochlear implant for at least 12 months and were patients of the Department of Otolaryngology at the Egas Moniz Hospital in Lisbon. Permission, as well the guidelines for translation, were obtained from the authors of the scale. Translation and cultural adaptation were carried out, in addition to the evaluation of reproducibility and internal consistency. RESULTS: The participants were 44.0% male and 56.0% female, aged between 20 and 79 years (55.50 ± 15.69). The results of the study showed an overall level of satisfaction of 65.07 among cochlear implants users. The level of satisfaction of the subdomains was 64.40 in basic sound perception, 71.35 in advanced sound perception, 57.91 in speech production, 59.05 in self-esteem, 69.75 in activity and 68.50 in social functioning. Internal consistency (Cronbach α score = 0.96) and test-retest reliability coefficients proved to be strong. Furthermore, the questionnaire's overall and subdomains average scores did not differ significantly from the results obtained with the original scale. CONCLUSION: This adaptation of the NCIQ questionnaire for European Portuguese should be considered a good tool to evaluate the level of satisfaction of cochlear implant users and, so far, it is the only scale in this field validated for application in the Portuguese population.

Introdução: O questionário Nijmegen Cochlear Implant Questionnaire (NCIQ) consiste numa escala simples e de rápida aplicação para avaliar a satisfação dos indivíduos que utilizam implantes cocleares. O objetivo deste estudo foi a validação do NCIQ para o Português Europeu e avaliação da qualidade de vida em adultos utilizadores de implantes cocleares. Material e Métodos: Participaram no estudo 50 adultos utilizadores de implante coclear multicanal (uni ou bilateral), com surdez pós-lingual, no mínimo com 12 meses de uso, implantados e seguidos no serviço de Otorrinolaringologia do Hospital Egas Moniz em Lisboa. Foram pedidas a autorização e as normas para a tradução do questionário aos autores da escala e realizada a tradução e retroversão do questionário, a adaptação cultural, e a avaliação da reprodutibilidade e da consistência interna. Resultados: Os participantes eram 44,0% do género masculino e 56,0% do feminino, com idades compreendidas entre os 20 e os 79 anos (55,50 ± 15,69). Os resultados obtidos neste estudo demonstraram um nível de satisfação global de 65,07 nos utilizadores de implantes cocleares. O nível de satisfação dos subdomínios foi de 64,40 na perceção básica do som, 71,35 na perceção avançada do som, 57,91 na produção da fala, 59,05 na autoestima, 69,75 na atividade e 68,50 nas interações sociais. A versão traduzida do questionário NCIQ apresentou uma boa consistência interna para todos os domínios existentes no questionário (α de Cronbach = 0,96). Verificou-se também uma boa reprodutibilidade inter-pesquisadores. Para a pontuação global e das subescalas do questionário, os resultados médios obtidos demonstraram não haver diferenças significativas com a escala original. Conclusão: A adaptação do Nijmegen Cochlear Implant Questionnaire para Português Europeu deve ser considerada um bom instrumento para a avaliação da satisfação dos utilizadores de implantes cocleares e é, até ao momento, a única escala neste domínio validada para aplicação na população portuguesa.

Deep Neural Networks Applied to Stock Market Sentiment Analysis.

The volume of data is growing exponentially and becoming more valuable to organizations that collect it, from e-commerce data, shipping, audio and video logs, text messages, internet search queries, stock market activity, financial transactions, the Internet of Things, and various other sources. The major challenges are related with the way to extract insights from such a rich data environment and whether Deep Learning can be successful with Big Data. To get some insight on these topics, social network data are employed as a case study on how sentiments can affect decisions in stock market environments. In this paper, we propose a generalized Deep Learning-based classification framework for Stock Market Sentiment Analysis. This work comprises the study, the development, and implementation of an automatic classification system based on Deep Learning and the validation of its adequacy and efficiency in any scenario, particularly Stock Market Sentiment Analysis. Distinct datasets and several Deep Learning approaches with different layers and embedded techniques are used, and their performances are evaluated. These developments show how Deep Learning reacts to distinct contexts. The results also give context on how different techniques with different parameter combinations react to certain types of data. Convolution obtained the best results when dealing with complex data inputs, and long short-term layers kept a memory of data, allowing inputs which are not as common to still be considered for decisions. The models that resulted from Stock Market Sentiment Analysis datasets were applied with some success to real-life problems. The best models reached accuracies of 73% in training and 69% in certain test datasets. In a simulation, a model was able to provide a Return on Investment of 4.4%. The results contribute to understanding how to process Big Data efficiently using Deep Learning and specialized hardware techniques.

Paragangliomas da Cabeça e Pescoço: A Experiência de um Centro Oncológico do Sul da Europa.

INTRODUCTION: Paragangliomas are usually benign slow-growing tumors, but they are locally invasive and can cause significant morbidity. The aim of this study was to characterize the presenting symptoms, secretory status, genetics, imaging features, treatment modalities, post-treatment complications and survival of patients with head and neck paragangliomas treated at a single institution. MATERIAL AND METHODS: We retrospectively reviewed the clinical records of patients managed at our center between 1997 and 2020. RESULTS: Seventy-three patients were included in the study, encompassing 89 head and neck paragangliomas. Forty-eight patients (65.8%) were female and 15 (20.5%) had multiple tumor sites (including 10 patients with multicentric benign paragangliomas and five with disseminated malignant disease). Regarding location, our series encompassed 40 temporal bone paragangliomas (44.9%), 24 carotid body paragangliomas (27%), 22 vagal paragangliomas (24.7%), two laryngeal paragangliomas (2.2%) and one sinonasal paraganglioma (1.1%). Excessive catecholamine secretion was detected in 11 patients (15.1%). Sixty-four patients (87.7%) underwent genetic testing. Of those, 24 (37.5%) exhibited pathogenic succinate dehydrogenase complex germline mutations. Regarding patients who presented with untreated disease, 45 patients (66.2%), encompassing 55 tumors, underwent surgery as primary treatment modality, 20 (29.4%; 23 tumors) were initially treated with radiotherapy and three patients (4.4%, encompassing three solitary tumors) were kept solely under watchful waiting. Five-year overall survival was 94.9% and disease-free survival was 31.9%. CONCLUSION: Head and neck paragangliomas are rare, slow-growing but locally aggressive tumors resulting in high morbidity but low mortality rates.

Introdução: Os paragangliomas apresentam frequentemente um comportamento benigno e um crescimento indolente. Apesar disso, são localmente invasivos, podendo causar morbilidade significativa. O objetivo deste trabalho foi descrever as manifestações clínicas, atividade secretora, estudos genéticos e imagiológicos, modalidades terapêuticas, complicações e sobrevivência dos doentes com paragangliomas da cabeça e pescoço. Material e Métodos: Estudo retrospetivo dos doentes com paragangliomas da cabeça e pescoço observados num centro hospitalar terciário entre 1997 e 2020. Resultados: Foram incluídos no estudo 73 doentes, englobando 89 paragangliomas. Quarenta e oito doentes (65,8%) eram do sexo feminino e 15 (20,5%) apresentavam múltiplos focos tumorais (10 por multicentricidade e cinco por doença maligna disseminada). Foram incluídos 40 paragangliomas do osso temporal (44,9%), 24 tumores do corpo carotídeo (27%), 22 vagais (24,7%), dois laríngeos (2,2%) e um nasossinusal (1,1%). A secreção excessiva de catecolaminas foi detetada em 11 doentes (15,1%). Sessenta e quatro doentes (87,7%) foram alvo de teste genético. Desses, 24 (37,5%) exibiram mutações patogénicas do complexo succinato desidrogenase. Dos doentes com doença primária, 45 (66,2%; 55 tumores) foram submetidos a tratamento cirúrgico, 20 (29,4%; 23 tumores) a radioterapia e três (4,4%) ficaram sob vigilância. Aos cinco anos, a sobrevida global foi de 94,9% e a sobrevida livre de doença foi de 31,9%. Conclusão: Os paragangliomas da cabeça e pescoço são tumores raros, de crescimento lento, mas localmente agressivos que resultam em elevadas taxas de morbilidade, mas baixas taxas de mortalidade.

Risk survey for the population of Recife and neighboring cities due to the occurrence of radium in groundwater.

The Metropolitan Region of Recife and its surroundings are heavily exploited to capture water for public supply through tubular wells. However, a survey of the levels of natural radionuclides from these sources had never been carried out, even though part of this region contains a phosphate deposit that has a high concentration of natural uranium. In this context, this research aimed to identify 228Ra and 226Ra levels in groundwater in the coastal region of Pernambuco, Brazil. About 110 points (wells) of drinking water for public supply were identified and studies were carried out to estimate the level of ingestion and subsequent risk due to the presence of this radionuclide. The average concentration of combined radium was 104 mBq.L-1. For 228Ra an effective dose of 0.46, 0.11, 0.12 and 0.0276 mSv.y-1 for infants, children aged 1 and 10 and adults, respectively, were obtained. Although doses above those recommended by WHO were found, the equivalent dose and the induction of bone sarcoma did not indicate a risk to the population. Groundwater with higher dose values is influenced by local geology.

Lateral semicircular canal-BPPV: Prospective randomized study on the efficacy of four repositioning maneuvers.

INTRODUCTION: Multiple repositioning maneuvers have been described to treat lateral semi-circular canal Benign Paroxysmal Positional Vertigo (LC-BPPV) patients. In this study, we compare efficacy of four therapeutic repositioning maneuvers for LC-BPPV patients and aim to identify clinical variables associated with persistent disease. MATERIAL AND METHODS: A prospective study was conducted at a tertiary center, between January 2017 and September 2019. Patients diagnosed with LC-BPPV were randomly treated with Gufoni or barbecue-roll maneuvers (for the geotropic variant) and Gufoni-Appiani, barbecue-roll or Zuma-e-Maia maneuvers (for the apogeotropic form). Efficacy was compared and statistical analysis was performed to find clinical factors associated with no response. RESULTS: Forty-eight patients and 82 maneuvers were included. Female patients and right side were more commonly affected. The mean age was 67 years. Seven cases (14.6%) resulted from a canal-switch. One single maneuver resolved 23 cases (47.9%) and the success rate rose to 75% at the end of the first visit (after up to 4 maneuvers) and to 93.8% after a-week of follow-up. Success rates were significantly better with Gufoni (68%) than with barbecue roll (34.8%; p=0.021) in geotropic LC-BPPV and better with Gufoni-Appiani (71.4%) than barbecue roll and Zuma-e-Maia maneuvers (33.3%; p=0.239) in apogeotropic LC-BPPV. Higher rates of persistent disease after first visit were found with older patients, left side and apogeotropic LC-BPPV and with longer latency and duration diagnostic nystagmus. CONCLUSION: Our study suggests that Gufoni and Gufoni-Appiani maneuvers may be the most efficacious treatment for geotropic and apogeotropic LC-BPPV, respectively, compared to barbecue-roll and Zuma-e-Maia maneuvers.

VPPB del canal semicircular lateral: estudio prospectivo aleatorizado de la eficacia de 4 maniobras de reposicionamiento / Lateral semicircular canal-BPPV: Prospective randomized study on the efficacy of four repositioning maneuvers

Introduction: Multiple repositioning maneuvers have been described to treat lateral semi-circular canal Benign Paroxysmal Positional Vertigo (LC-BPPV) patients. In this study, we compare efficacy of four therapeutic repositioning maneuvers for LC-BPPV patients and aim to identify clinical variables associated with persistent disease. Material and methods: A prospective study was conducted at a tertiary center, between January 2017 and September 2019. Patients diagnosed with LC-BPPV were randomly treated with Gufoni or barbecue-roll maneuvers (for the geotropic variant) and Gufoni-Appiani, barbecue-roll or Zuma-e-Maia maneuvers (for the apogeotropic form). Efficacy was compared and statistical analysis was performed to find clinical factors associated with no response. Results: Forty-eight patients and 82 maneuvers were included. Female patients and right side were more commonly affected. The mean age was 67 years. Seven cases (14.6%) resulted from a canal-switch. One single maneuver resolved 23 cases (47.9%) and the success rate rose to 75% at the end of the first visit (after up to 4 maneuvers) and to 93.8% after a-week of follow-up. Success rates were significantly better with Gufoni (68%) than with barbecue roll (34.8%; p=0.021) in geotropic LC-BPPV and better with Gufoni-Appiani (71.4%) than barbecue roll and Zuma-e-Maia maneuvers (33.3%; p=0.239) in apogeotropic LC-BPPV. Higher rates of persistent disease after first visit were found with older patients, left side and apogeotropic LC-BPPV and with longer latency and duration diagnostic nystagmus. Conclusion: Our study suggests that Gufoni and Gufoni-Appiani maneuvers may be the most efficacious treatment for geotropic and apogeotropic LC-BPPV, respectively, compared to barbecue-roll and Zuma-e-Maia maneuvers. (AU)

Introducción: Se han descrito múltiples maniobras de reposicionamiento para tratar a los pacientes con vértigo postural paroxístico benigno del canal semicircular lateral (VPPB-CSL). En este estudio comparamos la eficacia de 4 maniobras de reposicionamiento terapéutico para pacientes de BPPV-CSL, con el objetivo de identificar las variables clínicas asociadas a la persistencia de la enfermedad. Material y métodos: Se realizó un estudio prospectivo en un centro terciario, entre enero de 2017 y septiembre de 2019. Se trató aleatoriamente a los pacientes diagnosticados de VPPB-CSL con las maniobras de Gufoni o Barbecue-Roll (para la variante geotrópica) y las maniobras de Gufoni-Appiani, Barbecue-Roll o Zuma-e-Maia (para la forma apogeotrópica), comparándose su eficacia y realizándose un análisis estadístico para encontrar los factores clínicos asociados a la falta de respuesta. Resultados: El estudio incluyó 48 pacientes y 82 maniobras. Las mujeres y el lado derecho fueron los más comúnmente afectados. La edad media fue de 67 años. Siete casos (14,6%) fueron resultado de un fenómeno de reentrada. Una única maniobra resolvió 23 casos (47,9%), elevándose la tasa de éxito al 75% al finalizar la primera visita (tras un máximo de 4 maniobras) y al 93,8% tras una semana de seguimiento. Las tasas de éxito fueron significativamente más altas con la maniobra de Gufoni (68%) en comparación con la de Barbecue-Roll (34,8%; p=0,021) en VPPB-CSL geotrópico, y también fueron más altas con las maniobras de Gufoni-Appiani (71,4%) en comparación con las de Barbecue-Roll y Zuma-e-Maia (33,3%; p=0,239) en VPPB-CSL apogeotrópico. Las tasas más altas de persistencia de la enfermedad tras la primera visita se encontraron en pacientes mayores, lado izquierdo y VPPB-CSL apogeotrópica, con mayor latencia y duración del nistagmo diagnóstico. (AU)

Personality and psychopathology in Ménière's disease.

INTRODUCTION AND OBJECTIVES: Psychological factors in vertigo patients have been extensively studied but the role of anxiety and personality traits in the clinical course of Ménière's disease (MD) is unknown. The objectives of this study are to identify and characterize psychopathology in MD and to find risk factors for an increased rate and intensity of crisis and chronic symptoms. MATERIALS AND METHODS: We performed a transversal study in all patients diagnosed with definite MD in our department during a 5-year period. Sample subjects were interviewed in 3 steps: first, an otorhinolaryngologist collected information about clinical and pharmacological background of MD; second, a psychiatrist screened for mood, anxiety and personality disorders; in a third stage, the patient completed the DHI (Dizziness Handicap Inventory), STAI-Y (State Trait Anxiety Inventory), NEO-PI-R (Neo Personality Inventory Reviewed) and VAS (Visual Analogue Scale) for vertigo and dizziness. Statistical analysis was performed to search for risk factors for multiple and intense crisis and chronic symptoms. RESULTS: Thirty-four patients completed all 3 phases of the study. A predominant dysfunctional personality trait was identified in 80% of patients (predominantly cluster C type), 35% were being treated with psychiatric medication and 34.4% had a considerable mood or anxiety disorder. All patients scored high (>7) in VAS during crisis. There was a statistically significant positive correlation between crisis rate and STAI, anxiety-subscale (N1) in NEO-PI-R, VAS and DHI scores (p<.044). Crises were more common in bilateral MD (p=.041). DHI scores were higher with higher STAI and N1 (p=.001). Disease duration and pure tone average were found to have a positive moderate correlation (p=.017). CONCLUSIONS: The positive correlations between crisis rate, chronic dizziness and anxiety-related personality traits reveal a bidirectional and intimate relationship between personality, anxiety and MD, affecting these patients' quality of life. These results support the relevance of prospecting adjuvant psychological and psychiatric approaches to these patients.

Personality and psychopathology in Ménière's disease

Introduction and Objectives: Psychological factors in vertigo patients have been extensively studied but the role of anxiety and personality traits in the clinical course of Ménière's disease (MD) is unknown. The objectives of this study are to identify and characterize psychopathology in MD and to find risk factors for an increased rate and intensity of crisis and chronic symptoms.Materials and MethodsWe performed a transversal study in all patients diagnosed with definite MD in our department during a 5-year period. Sample subjects were interviewed in 3 steps: first, an otorhinolaryngologist collected information about clinical and pharmacological background of MD; second, a psychiatrist screened for mood, anxiety and personality disorders; in a third stage, the patient completed the DHI (Dizziness Handicap Inventory), STAI-Y (State Trait Anxiety Inventory), NEO-PI-R (Neo Personality Inventory Reviewed) and VAS (Visual Analogue Scale) for vertigo and dizziness. Statistical analysis was performed to search for risk factors for multiple and intense crisis and chronic symptoms.ResultsThirty-four patients completed all 3 phases of the study. A predominant dysfunctional personality trait was identified in 80% of patients (predominantly cluster C type), 35% were being treated with psychiatric medication and 34.4% had a considerable mood or anxiety disorder. All patients scored high (>7) in VAS during crisis. There was a statistically significant positive correlation between crisis rate and STAI, anxiety-subscale (N1) in NEO-PI-R, VAS and DHI scores (p<.044). Crises were more common in bilateral MD (p=.041). DHI scores were higher with higher STAI and N1 (p=.001). Disease duration and pure tone average were found to have a positive moderate correlation (p=.017). (AU)

Introducción y objetivos: Se han estudiado ampliamente los factores psicológicos en los pacientes con vértigo, pero se desconoce el rol de los rasgos de ansiedad y personalidad en el curso clínico de la enfermedad de Ménière (EM). El objetivo de este estudio es identificar y caracterizar la psicopatología en la EM, y encontrar los factores de riesgo del incremento de la tasa de crisis, intensidad de la crisis y síntomas crónicos.Materiales y métodosRealizamos un estudio transversal en todos los pacientes diagnosticados de EM definida en nuestro departamento durante un periodo de 5 años. Se entrevistó a los sujetos de la muestra en 3 pasos: en primer lugar un otorrinolaringólogo recabó información sobre los antecedentes clínicos y farmacológicos de EM; en segundo lugar, un psiquiatra determinó los trastornos emocionales, de ansiedad y personalidad y, en tercer lugar, el paciente completó las escalas Dizziness Handicap Inventory (DHI), State Trait Anxiety Inventory (STAI-Y), Neo Personality Inventory Reviewed (NEO-PI-R) y Escala analógica visual (EVA) en cuanto a vértigo y mareo. Se realizó un análisis estadístico para identificar los factores de riesgo de crisis múltiples e intensas y síntomas crónicos.ResultadosTreinta y cuatro pacientes completaron las 3 fases del estudio. Se identificó un rasgo predominante de personalidad disfuncional en el 80% de los pacientes (predominantemente el clúster tipo C), el 35% fue tratado con fármacos psiquiátricos, y el 34,4% tenía trastornos emocionales o de ansiedad notorios. Todos los pacientes tuvieron puntuaciones EVA altas (>7) durante la crisis. Existió una correlación positiva estadísticamente significativa entre la tasa de crisis y la subescala de ansiedad STAI (N1) en las escalas NEO-PI-R, EVA y DHI (p<0,044). (AU)

Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study.

INTRODUCTION: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. OBJECTIVE: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. METHODS: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included. RESULTS: A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome. CONCLUSION: Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries.

Transthyretin amyloid-related transitory events (TARTEs): Descriptive analysis of clinical, imagiological, and neurophysiological features.

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a multisystemic disorder inherited as an autosomal dominant trait. Transitory events in ATTR-FAP patients are a feature of this disorder and remain poorly depicted in the literature. We aimed to describe a case series of ATTR-FAP patients who presented to our department with transitory events and document the clinical, neuroimaging and neurophysiological characteristics of the events. We collected data from eight patients carrying the Val30Met ATTR-FAP variant. We registered a total of 23 events. Of the eight patients, seven had been submitted to hepatic transplant. The events were either TIA-like or seizures, often followed by prolonged language, motor or sensory impairment. In 9 (39%) of the events, the patients presented with fever, but an infection was only found in 5 (21%). Cerebrospinal fluid analysis was performed in 5 patients. EEG was abnormal in at least 1 event in 7 of the 8 patients. Brain MRI was performed in 3 patients during the acute stage and showed no acute lesions. Although the etiology of these events remains unclear, brain MRI performed in the acute phase of acute TIA-like events and the EEG abnormalities, argues in favor of regional brain dysfunction due to amyloid deposition. Focal neurological episodes should be considered in long-term duration Val30Met ATTR-FAP patients, who present with acute neurological deficits or seizures.

α Espec-222 as a variant to the radon monitoring method using a solid state nuclear track.

Radon is important in indoor radiometry, where radiological impact is relevant. The improvement of low-cost methods makes it possible to maximize the monitored areas. Thus, a simple and robust monitoring device based on SSNTD CR-39 was designed. Detector conditions were standardized to reduce operational errors and increase productivity. The calibration factor by the slope method allowed efficiency greater than 93%. The monitoring system is satisfactory in terms of operation and performance, suitable for a wide range of radon monitoring situations.

Therapeutic inertia in relapsing-remitting multiple sclerosis.

BACKGROUND: Therapeutic inertia (TI) is defined as a failure to initiate or intensify treatments despite evidence of disease activity. Its prevalence and determining factors in Relapsing-Remitting Multiple Sclerosis (RRMS) patients in Portugal are not known. The main objective of this work was to ascertain the prevalence of TI in RRMS and its determining factors. METHODS: We conducted a multicentre retrospective observational study of RRMS patients followed in MS Clinics of six Portuguese hospitals with at least one medical appointment in 2018. TI was defined as the absence of treatment initiation or intensification when therapeutic goals were unmet, that is when there was evidence of disease activity based on the definition of "no evidence of disease activity" (NEDA) which refers to absence of clinical relapses, absence of disease progression measured by expanded disability status scale (EDSS) and absence of new disease activity (new T2 lesions/enhancing lesion) on magnetic resonance imaging (MRI) over the period of observation. RESULTS: We included 427 patients with RRMS meeting inclusion criteria, 69.6% females, with a mean age of 41.66 years old. The mean age at diagnosis was 33.17 years old and the average number of years since diagnosis was 8.72. MS relapses were reported on 54 patients. Moderate to severe relapses were reported in 59.3%. Median EDSS score was 1.5. Intention to get pregnant was explicit in 39 patients, representing 18.8% of the women at childbearing age. Among the 365 patients who had an MRI, 23.8% had new T2 lesions and 7.4% had enhancing lesions. Regarding DMT, 72.8% were treated with interferon, glatiramer acetate, teriflunomide, or dimethyl fumarate, 20.6% were under fingolimod, natalizumab, rituximab, and cladribine, and the remaining 6.6% were without treatment. Adverse events were reported in 12.9% of patients, and 10.1% mentioned preferences regarding the treatment. TI was present in 80 (18.7%) patients, representing 54.8% of those with potential to inertia. Patients with a radiologically less active disease, who were already on a DMT and who had no adverse events from their current treatment were more likely to have TI (p<0,05). Also, patients followed in centers classified as higher level of care (level 1) had more TI compared with patients followed in centers of levels 2 and 3. CONCLUSION: TI was present in 1 in 5 patients, exceeding half of the sample with the potential to inertia, corroborating the high prevalence of TI in other studies. The determining factors of TI were the absence of relapses or the occurrence of mild relapses, being already on DMT, absence of adverse events, and follow-up in higher care level centers. TI is a topic rarely addressed in MS and this work highlights the importance of therapeutic optimization in these patients. Further studies should be held to explore the factors that influence TI once they have a great impact on therapeutic decisions.

Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in ANO3-Related Dystonia.

BACKGROUND: Mutations in the anoctamin 3 (ANO3) gene cause autosomal dominant craniocervical dystonia (DYT24), presenting from childhood to mid-life. However, in the past years, the clinical spectrum of this disorder has widened. We present a family with heterogeneous presentation, exemplifying phenotypic diversity in DYT24. CASES: The index case presented with myoclonic dystonia at age 10. His family history was remarkable for cervical dystonia with myoclonus in his grandfather, cervical and upper limb dystonia along with dopa-responsive parkinsonism in his father and lower-limb dystonia in his teenage sister. Magnetic resonance imaging and blood work-ups of all the affected family members were normal. The genetic panel for inherited forms of dystonia disclosed a point mutation c.1787C > A (p.Ser596Tyr) segregated in all affected family members. CONCLUSIONS: ANO3 mutations usually present with craniocervical dystonia and rarely generalized or leg dystonia. This family exemplifies the heterogeneous presentation of this disorder as well as a wide phenotypic variability within the same family.