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- Acute Onset of Adult Alexander Disease and the Concept of GFAP Toxicity.Publication . Godinho, Filipe; Guerreiro, Carolina; Parente Freixo, João; Oliveira, Jorge; Lourenço Rosa, José
- Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.Publication . Sequeira, Marta; Godinho, Filipe; Lourenço, JoãoAmyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. We describe a patient with a homozygous pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed.
- Cerebral Venous Sinus Thrombosis in Traumatic Brain Injury: a Systematic Review of its Complications, Effect on Mortality, Diagnostic and Therapeutic Management, and Follow-Up.Publication . Netteland, Dag Ferner; Sandset, Else Charlotte; Mejlænder-Evjensvold, Magnus; Aarhus, Mads; Jeppesen, Elisabeth; Aguiar de Sousa, Diana; Helseth, Eirik; Brommeland, Tor; FrontiersObjective: Cerebral venous sinus thrombosis (CVST) is increasingly being recognized in the setting of traumatic brain injury (TBI), but its effect on TBI patients and its management remains uncertain. Here, we systematically review the currently available evidence on the complications, effect on mortality and the diagnostic and therapeutic management and follow-up of CVST in the setting of TBI. Methods: Key clinical questions were posed and used to define the scope of the review within the following topics of complications; effect on mortality; diagnostics; therapeutics; recanalization and follow-up of CVST in TBI. We searched relevant databases using a structured search strategy. We screened identified records according to eligibility criteria and for information regarding the posed key clinical questions within the defined topics of the review. Results: From 679 identified records, 21 studies met the eligibility criteria and were included, all of which were observational in nature. Data was deemed insufficiently homogenous to perform meta-analysis and was narratively synthesized. Reported rates of venous infarctions ranged between 7 and 38%. One large registry study reported increased in-hospital mortality in CVSP and TBI compared to a control group with TBI alone in adjusted analyses. Another two studies found midline CVST to be associated with increased risk of mortality in adjusted analyses. Direct data to inform the optimum diagnostic and therapeutic management of the condition was limited, but some data on the safety, and effect of anticoagulation treatment of CVST in TBI was identified. Systematic data on recanalization rates to guide follow-up was also limited, and reported complete recanalization rates ranged between 41 and 86%. In the context of the identified data, we discuss the diagnostic and therapeutic management and follow-up of the condition. Conclusion: Currently, the available evidence is insufficient for evidence-based treatment of CVST in the setting of TBI. However, there are clear indications in the presently available literature that CVST in TBI is associated with complications and increased mortality, and this indicates that management options for the condition must be considered. Further studies are needed to confirm the effects of CVST on TBI patients and to provide evidence to support management decisions.
- Early Prediction of Delayed Ischemia and Functional Outcome in Acute Subarachnoid Hemorrhage: Role of Diffusion Tensor Imaging.Publication . Fragata, Isabel; Alves, Marta; Papoila, Ana Luísa; Nunes, Ana Paiva; Ferreira, Patrícia; Canto-Moreira, Nuno; Canhão, PatríciaBackground and purpose: Diffusion tensor imaging (DTI) parameters are markers of cerebral lesion in some diseases. In patients with acute subarachnoid hemorrhage (SAH), we investigated whether DTI parameters measured at <72 hours might be associated with delayed cerebral ischemia (DCI) and with poor functional outcome at 3 months (modified Rankin Scale score ≥3). Methods: DTI was performed in a prospective cohort of 60 patients with nontraumatic SAH at <72 hours. Association of fractional anisotropy and apparent diffusion coefficient values at <72 hours with the occurrence of DCI and outcome at 3 months was evaluated with logistic regression models, adjusting for known predictors of prognosis. Results: At <72 hours after SAH, fractional anisotropy values at the cerebellum were associated with DCI occurrence (78% less odds of DCI for each 0.1 increase in fractional anisotropy; P=0.019). Early apparent diffusion coefficient values were not associated with DCI. After adjusting for confounding variables, an increase of 10 U in apparent diffusion coefficient at the frontal centrum semiovale corresponded to 15% increased odds of poor outcome (P=0.061). Conclusions: DTI parameters at <72 hours post-SAH are independently associated with the occurrence of DCI and functional outcome. These preliminary results suggest the role of DTI parameters as surrogate markers of prognosis in nontraumatic SAH.
- Efficacy and Safety of IncobotulinumtoxinA in Older Patients with Upper Limb Spasticity: a Pooled Analysis.Publication . Munin, Michael C; Camões-Barbosa, Alexandre; Cordero-García, Carlos; Baricich, Alessio; Carda, Stefano; Althaus, Michael; Comes, Georg; Vacchelli, Matteo; Wissel, Jörg: The aim of this study was to compare the efficacy and safety of a single cycle of incobotulinumtoxinA versus placebo in pooled data from older patients (aged ≥65 years) with upper limb spasticity (ULS). : This study was a post hoc analysis of pooled data from seven prospective, multicenter, phase II or III trials of incobotulinumtoxinA in adult patients aged ≥65 years from across the world with post-stroke ULS or upper and lower limb spasticity, including a subgroup with moderate-to-severe ULS. Changes from baseline in ULS severity were evaluated using the (modified) Ashworth Scale across different spasticity patterns at 4 and 12 weeks after incobotulinumtoxinA injection. : In 267 older patients with ULS, including a subgroup of 207 with moderate-to-severe ULS, all ULS patterns statistically analyzed (elbow flexion, thumb-in-palm, clenched fist, wrist flexion, and pronated forearm) were improved more by incobotulinumtoxinA than placebo at week 4 ( < 0.05). For most of these patterns, the difference remained significant at week 12 ( < 0.05). IncobotulinumtoxinA was generally well tolerated. : This study, which analyzed data from the largest cohort of older patients in the literature, provides information regarding the use of incobotulinumtoxinA in ULS, the efficacy and favorable safety profile of incobotulinumtoxinA for the treatment of ULS in older patients, particularly in those with moderate-to-severe spasticity, was confirmed.
- Evaluation of the Efficacy of the SARS-CoV-2 Vaccine Additional and Booster Doses in Immunocompromised Patients With Multiple Sclerosis: the COVACiMS Study.Publication . Ladeira, Filipa; Nobrega, Claudia; Cerqueira, JoãoStudies evaluating COVID-19 primary vaccination with two vaccines reported a blunt response in Multiple Sclerosis (MS) patients under anti-CD20 and sphingosine-1-phosphate (S1P) modulators. An extended primary vaccination (EPV) was recommended in immunosuppressed MS patients. Data on the effectiveness of the EPV and subsequent booster dose are limited. A prospective cohort study (n = 270) was conducted to evaluate the humoral and cellular immunogenicity of the EPV scheme in immunocompromised MS patients (i.e., treated with anti-CD20, S1P modulators, natalizumab, teriflunomide, or dimethyl fumarate) vs. regular primary vaccination in non-treated patients - primary course (PC) cohort. The effect of a subsequent booster dose was also assessed - first booster (FB) cohort . The seroconversion rates were 55% and 56% in anti-CD20 and 75% and 67% in S1P modulators group in PC and FB cohort, respectively, and 100% in the remaining groups. A positive SARS-CoV-2 Spike T-spot was observed in 22% of patients under S1P modulators in PC cohort and 67% in FB cohort; the remaining groups had 75% or more. Similar rates of breakthrough infection were observed in both groups vs. controls. Compared to non-treated MS patients, immunosuppressed patients under anti-CD20 and S1P modulators drugs receiving EPV scheme or booster dose still present lower protection rates to SARS-CoV-2.
- Gender Disparities in the Academic Performance of Neurology Residents in Portugal.Publication . Ladeira, Filipa; Faustino, Patrícia; Soares, Mafalda; Carvalho, VanessaImplicit bias has been linked to gender disparities in medical careers, impacting not only access to leadership positions but also early career opportunities. We aimed to evaluate if there were differences in the assessment of Neurology residents according to gender. We collected publicly available grades and rankings of two major evaluations that residents are submitted to, one at the beginning and another at the end of the neurology residency program, the National Board Exam and neurology examination, respectively. The National Board Examination is a multiple-choice gender-blinded evaluation, while the neurology examination is an oral gender-unblinded evaluation. We found that 36.5% of women and 21.6% of men were in the first quartile of the National Board Examination ranking, which reflects a similar representation among top classifications when assessed through a gender-blinded examination. On the other hand, the percentage of men who were in the top classification of NE, a gender-unblinded evaluation, was more than twice as high compared to women (37.8% vs 18.3%, p < 0.05). The findings of the present study may imply that there could be a disparity in women's career progression among neurology residents in Portugal, although the recruitment seems balanced between genders.
- Infectious Meningovasculitis Secondary to a Rectothecal Fistula in a Patient with Crohn’s DiseasePublication . Godinho, Filipe; Oliveira, Tiago; Capela, Carlos
- Multidisciplinary Approaches and Molecular Diagnostics in New-Onset Refractory Status Epilepticus and Nontuberculous Mycobacterial CNS Infections in the ICU: A Case Report.Publication . Batarda Sena, Pedro Manuel; Ferro, Margarida; Alves Cabrita, Joana; Pontinha, Carlos; Mestre, Ana; Oliveira, Mário; Bento, LuisThe diagnosis and management of complex neurological conditions such as New-Onset Refractory Status Epilepticus (NORSE) and central nervous system (CNS) infections caused by non-tuberculous mycobacteria (NTM) pose substantial difficulties in intensive care units (ICUs). This article combines a case report and a literature review that explores the diagnostic dilemmas and therapeutic strategies for these critical conditions. We report the case of an 83-year-old female with chronic granulomatous meningitis secondary to NTM, presenting a challenging diagnostic and complex management complexity typical of such a rare disease through a period time of five years. Her case emphasized the importance of a multidisciplinary approach in such cases, as the interplay between neurology and intensive care was vital. The need for new molecular diagnostic technologies is shown to be of high significance in identifying the causative pathogens and improving patient outcomes in these rare but critical conditions.
- Multiple Sclerosis Disease-Modifying Treatment Algorithms: 2025 Positioning of the Portuguese Multiple Sclerosis Study Group.Publication . Capela, Carlos; Santos, Ernestina; Palavra, Filipe; Guimarães, Joana; Cerqueira, João; Vale, José; Sousa, Lívia; Batista, Sónia; Sá, Maria JoséMultiple sclerosis (MS) is a chronic autoimmune-mediated neurodegenerative disease characterized by inflammation, demyelination, and axonal/neuronal damage in the central nervous system. In Portugal, the prevalence of MS is approximately 64.4 per 100 000 individuals. It is typically diagnosed in young adults aged 30 to 40, with a higher incidence in women, although it can also affect children/adolescents and the elderly. Recent advances in MS treatment include the development and approval of several new disease-modifying therapies (DMTs) such as ocrelizumab, cladribine, siponimod, and others, thus expanding options for relapsing-remitting MS (RRMS). However, the options for progressive forms of MS remain limited. In Portugal, MS management strategies, guided by the 2015 recommendations of the Directorate-General of Health and the Portuguese medicines agency, need updating to incorporate recent scientific evidence and clinical expertise. The aim of this manuscript is to highlight gaps in current Portuguese MS treatment algorithms and propose enhancements aligned with global standards, thus improving treatment selection and patient outcomes in the Portuguese healthcare system. Developed by nine Portuguese neurology experts from the Portuguese Multiple Sclerosis Study Group, this document not only provides evidence and clinical practice-based recommendations but also includes DMT algorithms tailored for various MS subtypes, including radiologically and clinically isolated syndromes, RRMS, progressive MS, and specific situations in MS treatment such as pediatric-onset MS, late-onset MS, pregnancy and breastfeeding. This document provides evidence- and clinical practice-based recommendations to optimize decision-making during MS management in Portuguese centers. The experts aim to prompt the urgent revision of national MS treatment frameworks, incorporating the latest advancements in MS research and international guidelines, to reduce the socio-economic burden on the national healthcare system and improve the long-term health outcomes of MS patients.