DDSNOS - Departamento de Doenças do Sistema Nervoso e Orgãos dos Sentidos
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- Acufeno púlsátil - Caso clínico de fístula arteriovenosa dural e revisão da literaturaPublication . Monteiro, D.; Lino, J.; Carvalho, I.; Ferreira, M.; Xavier, J.O acufeno é definido como uma percepção consciente de um som na ausência de fonte externa. Embora não seja considerado uma doença, muitos doentes sofrem deste sintoma. Tem múltiplas etiologias sendo que, apenas algumas são conhecidas. As malformações vasculares constituem a principal causa de acufenos pulsáteis. Descrevem-se dois casos clínicos de doentes com acufeno pulsátil. Ambos realizaram angio-ressonância que evidenciou fístula arteriovenosa dural (DAVF) do seio lateral direito, uma do tipo I e outra do tipo IIa de Cognard. Foram submetidas a angiografia crânioencefálica com embolização, recorrendo a partículas de polivinil álcool (PVA) e a Onyx®, com encerramento da fístula e resolução das queixas. O tratamento das fístulas arteriovenosas durais deve ser ponderado de acordo como tipo de fístula, segundo as escalas de Cognard ou de Borden e, com a existência ou não de sintomatologia.
- Acute ischemic stroke secondary to glioblastoma. A case reportPublication . Pina, S.; Carneiro, A.; Rodrigues, T.; Samões, R.; Taipa, R.; Melo-Pires, M.; Pereira, C.Glioblastoma is a malignant infiltrative glial tumor occurring most often over 50 years of age, with diverse clinical presentations. We describe a case of temporal lobe glioblastoma with a rare presentation as an acute ischemic stroke, discussing the imaging and histopathological findings, and reviewing the literature. A 77-year-old woman had sudden onset of left hemiparesis and hemihypoesthesia. The neuroradiological studies revealed an acute ischemic lesion in the right lenticulostriate arteries territory and a right anterior temporal lobe tumor, enhancing heterogeneously after contrast with enhancement of the right middle cerebral artery wall. Histopathological analysis of the resected temporal lesion revealed a glioblastoma multiforme with tumoral infiltration of the vascular wall. Glioblastoma should be considered in the etiology of acute ischemic stroke, where neuroimaging plays an important diagnostic role, enabling a more immediate therapeutic approach, with a consequent impact on survival.
- Admission and Readmission/Death Patterns in Hospitalized and Non-hospitalized First-Ever-in-a-Lifetime Stroke Patients During the First Year: A Population-Based Incidence StudyPublication . Abreu, Pedro; Magalhães, Rui; Baptista, Diana; Azevedo, Elsa; Correia, ManuelBackground: Hospitalization and readmission rates after a first-ever-in-a-lifetime stroke (FELS) are considered measures of quality of care and, importantly, may give valuable information to better allocate health-related resources. We aimed to investigate the hospitalization pattern and the unplanned readmissions or death of hospitalized (HospS) and non-hospitalized stroke (NHospS) patients 1 year after a FELS, based on a community register. Methods: Data about hospitalization and unplanned readmissions and case fatality 1 year after a FELS were retrieved from the population-based register undertaken in Northern Portugal (ACIN2), comprising all FELS in 2009-2011. We used the Kaplan-Meier method to estimate 1-year readmission/death-free survival and Cox proportional hazard models to identify independent factors for readmission/death. Results: Of the 720 FELS, 35.7% were not hospitalized. Unplanned readmission/death within 1 year occurred in 33.0 and 24.9% of HospS and NHospS patients, respectively. The leading causes of readmission were infections, recurrent stroke, and cardiovascular events. Stroke-related readmissions were observed in more than half of the patients in both groups. Male sex, age, pre- and post-stroke functional status, and diabetes were independent factors of readmission/death within 1 year. Conclusion: About one-third of stroke patients were not hospitalized, and the readmission/death rate was higher in HospS patients. Still, that readmission/death rate difference was likely due to other factors than hospitalization itself. Our research provides novel information that may help implement targeted health-related policies to reduce the burden of stroke and its complications.
- Advances in the treatment of hereditary transthyretin amyloidosis: A reviewPublication . Gertz, M.; Mauermann, M.; Grogan, M.; Coelho, T.Introduction: Amyloid transthyretin amyloidosis (ATTR) is a progressive and often fatal disease caused by the buildup of mutated (hereditary ATTR [hATTR]; also known as ATTR variant [ATTRv]) or normal transthyretin (wild-type ATTR) throughout the body. Two new therapies-inotersen, an antisense oligonucleotide therapy, and patisiran, an RNA interference therapy-received marketing authorization and represent a significant advance in the treatment of amyloidosis. Herein, we describe the clinical presentation of ATTR, commonly used procedures in its diagnosis, and current treatment landscape for ATTR, with a focus on hATTR. Methods: A PubMed search from 2008 to September 2018 was conducted to review the literature on ATTR. Results: Until recently, there have been few treatment options for polyneuropathy of hATTR. Inotersen and patisiran substantially reduce the amyloidogenic precursor protein transthyretin and have demonstrated efficacy in patients with early- and late-stage disease and in slowing or improving neuropathy progression. In contrast, established therapies, such as liver transplantation, typically reserved for patients with early-stage disease, and tafamidis, indicated for the treatment of early-stage disease in Europe, or diflunisal, a nonsteroidal anti-inflammatory drug that is used off-label, are associated with side effects and/or unclear efficacy in certain patient populations. Thus, inotersen and patisiran are positioned to be the preferred therapeutic modalities. Conclusions: Important differences between inotersen and patisiran, including formulation, dosing, requirements for premedications, and safety monitoring, require an understanding and knowledge of each treatment for informed decision making.
- Advantages of an Automated Method Compared With Manual Methods for the Quantification of Intraepidermal Nerve Fiber in Skin BiopsyPublication . Corrà, Marta; Sousa, Mafalda; Reis, Inês; Tanganelli, Fabiana; Vila-Chã, Nuno; Sousa, Ana Paula; Magalhães, Rui; Sampaio, Paula; Taipa, Ricardo; Maia, LuisIntraepidermal nerve fiber density (IENFD) measurements in skin biopsy are performed manually by 1-3 operators. To improve diagnostic accuracy and applicability in clinical practice, we developed an automated method for fast IENFD determination with low operator-dependency. Sixty skin biopsy specimens were stained with the axonal marker PGP9.5 and imaged using a widefield fluorescence microscope. IENFD was first determined manually by 3 independent observers. Subsequently, images were processed in their Z-max projection and the intradermal line was delineated automatically. IENFD was calculated automatically (fluorescent images automated counting [FIAC]) and compared with manual counting on the same fluorescence images (fluorescent images manual counting [FIMC]), and with classical manual counting (CMC) data. A FIMC showed lower variability among observers compared with CMC (interclass correlation [ICC] = 0.996 vs 0.950). FIMC and FIAC showed high reliability (ICC = 0.999). A moderate-to-high (ICC = 0.705) was observed between CMC and FIAC counting. The algorithm process took on average 15 seconds to perform FIAC counting, compared with 10 minutes for FIMC counting. This automated method rapidly and reliably detects small nerve fibers in skin biopsies with clear advantages over the classical manual technique.
- Age-specific periictal electroclinical features of generalized tonic-clonic seizures and potential risk of sudden unexpected death in epilepsy (SUDEP)Publication . Freitas, J.; Kaur, G.; Baca-Vaca Fernandez, G.; Tatsuoka, C.; Kaffashi, F.; A. Loparo, K.; Rao, S.; Loplumlert, J.; Kaiboriboon, K.; Amina, S.Generalized tonic–clonic seizure (GTCS) is the commonest seizure type associated with sudden unexpected death in epilepsy (SUDEP). This study examined the semiological and electroencephalographic differences (EEG) in the GTCSs of adults as compared with those of children. The rationale lies on epidemiological observations that have noted a tenfold higher incidence of SUDEP in adults.Weanalyzed the video-EEG data of 105 GTCS events in 61 consecutive patients (12 children, 23 seizure events and 49 adults, 82 seizure events) recruited from the Epilepsy Monitoring Unit. Semiological, EEG, and 3-channel EKG features were studied. Periictal seizure phase durations were analyzed including tonic, clonic, total seizure, postictal EEG suppression (PGES), and recovery phases. Heart rate variability (HRV)measures includingRMSSD (root mean square successive difference of RR intervals), SDNN (standard deviation of NN intervals), and SDSD (standard deviation of differences) were analyzed (including low frequency/high frequency power ratios) during preictal baseline and ictal and postictal phases. Generalized estimating equations (GEEs)were used to find associations between electroclinical features. Separate subgroup analyses were carried out on adult and pediatric age groups as well as medication groups (no antiepileptic medication cessation versus unchanged or reduced medication) during admission.Major differences were seen in adult and pediatric seizures with total seizure duration, tonic phase, PGES, and recovery phases being significantly shorter in children (p b 0.01). Generalized estimating equation analysis, using tonic phase duration as the dependent variable, found age to correlate significantly (p b 0.001), and this remained significant during subgroup analysis (adults and children) such that each 0.12-second increase in tonic phase duration correlated with a 1-second increase in PGES duration. Postictal EEG suppression durations were on average 28 s shorter in children. With cessation of medication, total seizure duration was significantly increased by a mean value of 8 s in children and 11 s in adults (p b 0.05). Tonic phase duration also significantly increased with medication cessation, and although PGES durations increased, this was not significant. Root mean square successive difference was negatively correlated with PGES duration (longer PGES durations were associated with decreased vagally mediated heart rate variability; p b 0.05) but not with tonic phase duration. This study clearly points out identifiable electroclinical differences between adult and pediatric GTCSs that may be relevant in explaining lower SUDEP risk in children. The findings suggest that some prolonged seizure phases and prolonged PGES duration may be electroclinical markers of SUDEP risk and merit further study.
- Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosisPublication . González-Duarte, Alejandra; Berk, John L.; Quan, Dianna; Mauermann, Michelle L.; Schmidt, Hartmut H.; Polydefkis, Michael; Waddington-Cruz, Márcia; Ueda, Mitsuharu; Conceição, Isabel M.; Kristen, Arnt V.; Coelho, Teresa; Cauquil, Cécile A.; Tard, Céline; Merkel, Madeline; Aldinc, Emre; Chen, Jihong; Sweetser, Marianne T.; Wang, Jing Jing; Adams, DavidHereditary transthyretin-mediated (hATTR) amyloidosis is a progressive, debilitating disease often resulting in early-onset, life-impacting autonomic dysfunction. The effect of the RNAi therapeutic, patisiran, on autonomic neuropathy manifestations in patients with hATTR amyloidosis with polyneuropathy in the phase III APOLLO study is reported. Patients received patisiran 0.3 mg/kg intravenously (n = 148) or placebo (n = 77) once every 3 weeks for 18 months. Patisiran halted or reversed polyneuropathy and improved quality of life from baseline in the majority of patients. At baseline, patients in APOLLO had notable autonomic impairment, as demonstrated by the Composite Autonomic Symptom Score-31 (COMPASS-31) questionnaire and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire autonomic neuropathy domain. At 18 months, patisiran improved autonomic neuropathy symptoms compared with placebo [COMPASS-31, least squares (LS) mean difference, - 7.5; 95% CI: - 11.9, - 3.2; Norfolk QOL-DN autonomic neuropathy domain, LS mean difference, - 1.1; - 1.8, - 0.5], nutritional status (modified body mass index, LS mean difference, 115.7; - 82.4, 149.0), and vasomotor function (postural blood pressure, LS mean difference, - 0.3; - 0.5, - 0.1). Patisiran treatment also led to improvement from baseline at 18 months for COMPASS-31 (LS mean change from baseline, - 5.3; 95% CI: - 7.9, - 2.7) and individual domains, orthostatic intolerance (- 4.6; - 6.3, - 2.9) and gastrointestinal symptoms (- 0.8; - 1.5, - 0.2). Rapid worsening of all study measures was observed with placebo, while patisiran treatment resulted in stable or improved scores compared with baseline. Patisiran demonstrates benefit across a range of burdensome autonomic neuropathy manifestations that deteriorate rapidly without early and continued treatment.
- Are Stroke Occurrence and Outcome Related to Weather Parameters? Results from a Population-Based Study in Northern PortugalPublication . Magalhães, R.; Silva, M.; Correia, M.; Bailey, T.Background: Changes in meteorological parameters have been associated with cardiovascular mortality and stroke. The high incidence of stroke in Portugal may be modelled by short- or long-term weather changes whose effect may be different across stroke types and severity. Methods: Data include all patients with a first-ever-in-a-lifetime stroke registered in a population of 86,023 residents in the city of Porto from October 1998 to September 2000. Specific stroke types were considered and ischaemic stroke (IS) subtype was defined according to the Oxfordshire Community Stroke Projet classification and the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria. Information on daily temperature, humidity and air pressure was obtained from the National Meteorological Office. The Poisson distribution was used to model the daily number of events as a function of each weather parameter measured over different hazard periods, and the binomial model to contrast effects across subgroups. Differential effects of meteorological parameters and hazard periods upon stroke occurrence and outcome were analysed in a stepwise model. Results: Among the 462 patients registered, 19.6% had a primary intracerebral haemorrhage (PICH) and 75.3% an IS. Among patients with IS, 21.6% were total anterior circulation infarcts (TACIs), 19.8% partial anterior circulation infarcts (PACIs), 19.5% posterior circulation infarcts (POCIs) and 39.1% were lacunar infarcts (LACIs). The aetiology of IS was large artery atherosclerosis in 6.9%, cardioembolism in 23.3% and small artery occlusion in 35.6%. The incidence of PICH increased by 11.8% (95% CI: 3.8–20.4%) for each degree drop in the diurnal temperature range in the preceding day. The incidence of IS increased by 3.9% (95% CI: 1.6–6.3%) and cardioembolic IS by 5.0% (95% CI: 0.2–10.1%) for a 1 ° C drop in minimum temperature in the same hazard period. The incidence of TACIs followed the IS pattern while for PACIs and POCIs there were stronger effects of longer hazard periods and no association was found for LACIs. The relative risk of a fatal versus a non-fatal stroke increased by 15.5% (95% CI: 6.1–25.4%) for a 1 ° C drop in maximum temperature over the previous day. Conclusions: Outdoor temperature and related meteorological parameters are associated with stroke occurrence and severity. The different hazard periods for temperature effects and the absence of association with LACIs may explain the heterogeneous effects of weather on stroke occurrence found in community- based and hospital admission studies. Emergency services should be aware that specific weather conditions are more likely to prompt calls for more severe strokes.
- Assessing risk factors for migraine: differences in gender transmissionPublication . Lemos, C.; Alonso, I.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.Abstract AIM: Our aim was to assess which specific factors are contributing to an increased risk of migraine in a group of 131 Portuguese families. METHODS: We studied 319 first-degree relatives, using a multilevel approach to account for the dependency among members from the same family. We included in the model relative's gender, the proband's gender and age-at-onset, to evaluate if any of these variables were associated with relative's affection status. We also included in the model proband's migraine subtype. We further assessed female and male transmissions within the proband nuclear family. RESULTS: Relatives' gender was found to be a risk factor for migraine (Odds Ratio = 2.86; 95% CI = 1.75-4.67), with females at a higher risk. When splitting probands according to their migraine subtype, we found that none of the variables studied contributed to relatives of MA-probands affection-status. Our results also show a significant difference between proband's transmission and the gender of the parents and offspring. CONCLUSIONS: With this study, we showed that gender is truly a risk factor for migraine and that a gender-biased transmission is also observed. This reinforce the importance of identifying genes associated with migraine that are modulated by genes located in the sex chromosomes and the study of mitochondrial DNA or X-chromosome and hormonal-related effects associated with migraine susceptibility
- Assessment, Diagnosis, and Treatment of Dysphagia in Patients Infected With SARS-CoV-2: A Review of the Literature and International GuidelinesPublication . Vergara, José; Skoretz, Stacey A; Brodsky, Martin B; Miles, Anna; Langmore, Susan E; Wallace, Sarah; Seedat, Jaishika; Starmer, Heather M; Bolton, Lee; Clavé, Pere; Freitas, Susana Vaz; Bogaardt, Hans; Matsuo, Koichiro; de Souza, Cinthia Madeira; Mourão, Lucia FigueiredoPurpose Speech-language pathologists are playing a crucial role in the assessment and management of patients infected with severe acute respiratory syndrome coronavirus 2. Our goal was to synthesize peer-reviewed literature and association guidelines from around the world regarding dysphagia assessment and management for this specific population. Method A review of publications available in the PubMed database and official guidelines of international groups was performed on May 23, 2020. The information was synthesized and categorized into three content areas for swallowing: clinical evaluation, instrumental assessment, and rehabilitation. Results Five publications were identified in the PubMed database. Following title, abstract, and full-text review, only three publications met inclusion criteria: two reviews and one narrative report. Additionally, 19 international guidelines were reviewed. To assess swallowing, a modified clinical evaluation was recommended and only following a risk assessment. Instrumental assessments were often considered aerosol generating, especially transnasal procedures such as endoscopy and manometry. For this reason, many associations recommended that these examinations be performed only when essential and with appropriate personal protective equipment. Guidelines recommended that intervention should focus on compensatory strategies, including bolus modification, maneuvers/postural changes, and therapeutic exercises that can be conducted with physical distancing. Respiratory training devices were not recommended during rehabilitation. Conclusions International associations have provided extensive guidance regarding the level of risk related to the management of dysphagia in this population. To date, there are no scientific papers offering disease and/or recovery profiling for patients with dysphagia and coronavirus disease 2019. As a result, research in this area is urgently needed.