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A KIF5A Motor Domain Pathogenic Variant Associated with Spastic Paraplegia Type...

Jesus, Tiago; Paula, André; Carvalho, Vanessa; Correia Guedes, Leonor

Spastic paraplegia type 10 is an autosomal dominant disease caused by KIF5A gene pathogenic variants. It commonly presents as pure spastic paraplegia but occasionally appears associated with polyneuropathy, cognitive impairment, parkinsonism, cerebellar ataxia, retinitis pigmentosa or deafness. The gene KIF5A codifies the kinesin-1 heavy chain, a protein with three main parts (globular motor domain, alfa-helica...

Data: 2025   |   Origem: SINAPSE

Gender Disparities in the Academic Performance of Neurology Residents in Portugal

Ladeira, Filipa; Faustino, Patrícia; Soares, Mafalda; Carvalho, Vanessa

Implicit 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 ...

Data: 2024   |   Origem: Acta Médica Portuguesa

Gender Disparities in the Academic Performance of Neurology Residents in Portugal.

Ladeira, Filipa; Faustino, Patrícia; Soares, Mafalda; Carvalho, Vanessa

Implicit 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 ...


FORMAÇÃO DE ESTUDANTES DE MEDICINA SOBRE ABORDAGEM DA VIA AÉREA EM CONTEXTO DE ...

Rodrigues Viana, Rita; Baptista, Sérgio; Alexandrino , Henrique; Vaz, Fábio; Madeira, Filipa; Carvalho, Vanessa

Introdução: A pandemia COVID-19 promoveu o ensino híbrido. O principal objetivo deste estudo é compará-lo com o ensino presencial a nível da aquisição de conhecimento e competências na abordagem da via aérea. Secundariamente, avaliar a opinião dos participantes relativamente aos dois formatos de aprendizagem. Finalmente, criar e validar uma ferramenta de avaliação das competências de abordagem da via aérea. Mét...


Prioritization process for European Academy of Neurology clinical practice guid...

Aleksovska, Katina; Bassetti, Claudio L. A.; Berger, Thomas; Carvalho, Vanessa; Costa, João; Deuschl, Günther; Frederiksen, Kristian S.; Jaarsma, Joke

Background and purpose: The development of high-quality clinical practice guidelines (CPGs) takes substantial time, effort, and resources. During the past years, the European Academy of Neurology (EAN) guideline production was significantly increased, so the need to develop clear, transparent, and methodologically solid criteria for prioritizing guideline topics became apparent. With this paper, we aim to defin...


Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in ANO3‐Relat...

Carvalho, Vanessa; Martins, Joana; Correia, Filipe; Costa, Manuela; Massano, João; Temudo, Teresa


Corrigendum to “Golden carbon of Sargassum forests revealed as an opportunity f...

Gouvêa, Lidiane P.; Assis, J.; Gurgel, Carlos F.D.; Serrao, Ester; Silveira, Thiago C.L.; Santos, Rui; Duarte, Carlos M.; Peres, Leticia M.C.


Tremor and Parkinsonism in chromosomopathies : a systematic review

Carvalho, Vanessa; Ferreira, Joaquim J; Correia Guedes, Leonor

The landscape of genetic forms of Parkinson's diseases (PD) has grown exponentially in recent years. Today, around 10% of PD cases are estimated to be of genetic etiology. However, the link between parkinsonism or tremor and chromosome disorders, both numerical and structural, has been neglected. We reviewed the occurrence and characteristics of parkinsonism and tremor syndromes in patients with chromosomic dis...


Guidelines should be guidelines: time to leave the terms "consensus" and "posit...

Aleksovska, Katina; Bassetti, Claudio L. A.; Berger, Thomas; Carvalho, Vanessa; Costa, João; Deuschl, Günther; Frederiksen, Kristian Steen

Clinical guidelines are “statements that include recommendations, intended to optimize patient care, that are informed by a systematic review of evidence and an assessment of the benefits and harms of alternative care options”. Clinical guidelines are increasingly becoming a part of neurology clinical practice, most probably because they may improve patient clinical outcomes. Methods and strategies intended to ...


Tremor: A Clinical Guide For The Non-Neurologist

Carvalho, Vanessa; Massano, João

Tremor is the commonest involuntary movement. The differential diagnosis is wide, and can be challenging even for experienced neurologists. Nonetheless, many tremors have a benign etiology and clinical course and, in many cases, non-neurologists are able to clinically manage these situations. This manuscript approaches the different types of tremor, their diagnosis, main differential diagnoses, the desired clin...

Data: 2019   |   Origem: Acta Médica Portuguesa

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