Browsing by Author "Matos, A"
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- Aneurisma aterosclerótico da artéria axilar: Um caso clínico raroPublication . Antunes, LF; Baptista, A; Moreira, J; Pereira, R; Gonçalves, A; Anacleto, G; Alegrio, J; Fonseca, M; Gonçalves, O; Matos, AOs aneurismas da artéria axilar de origem aterosclerótica são raros, mas podem originar complicações vasculares e neurológicas graves no membro superior, pelo que o seu tratamento deve ser precoce. Apresentamos o caso clínico de um homem de 64 anos com aneurisma da artéria axilar direita. O doente tinha antecedentes de aneurisma da aorta torácica já excluído por via endovascular. Devido ao crescimento súbito do aneurisma com sintomas neurológicos, foi submetido a aneurismectomia total com interposição de prótese PTFE 8 não aneladada (axilo-axilar). O estudo histológico revelou tratar-se de um aneurisma de origem aterosclerótica. Em consulta de follow-up o doente apresenta melhoria clínica e prótese permeável. O presente caso clínico realça a importância e os bons resultados que o tratamento cirúrgico tem nestes doentes.
- Aneurismas poplíteos: estudo retrospectivoPublication . Baptista, A; Antunes, L; Moreira, J; Pereira, R; Gonçalves, A; Anacleto, G; Alegrio, J; Fonseca, M; Gonçalves, O; Matos, AOs autores elaboraram um estudo retrospectivo de todos os casos clínicos admitidos no seu Serviço com o diagnóstico de aneurisma poplíteo ao longo de 5 anos. Material e Métodos: Para atingir esse objectivo, procederam à consulta dos processos hospitalares de todos os doentes admitidos com o diagnóstico de aneurisma poplíteo entre 01 de Janeiro de 2004 e 31 de Dezembro de 2008. Resultados: De um total de 61 doentes, 37 (60,7%) apresentavam aneurismas bilaterais. Desses 61 doentes, 58 eram do sexo masculino e 3 do feminino, sendo a média de idades de 66,9 ± 11,6 anos. 36,1% dos doentes apresentavam também aneurismas noutras localizações. Os aneurismas eram, na sua maioria, assintomáticos. Quando sintomáticos, a forma de apresentação mais frequente foi a isquémia aguda por trombose do aneurisma. Dentro da totalidade dos aneurismas poplíteos (n=98), 37 foram operados electivamente, 29 de urgência e 32 não foram operados. As intervenções cirúrgicas de eleição foram a exclusão do aneurisma através de bypass femoro-poplíteo distal com veia safena interna (n=48) ou com prótese (n=16). As taxas de patência primária aos 30 dias foram de 98% com o uso de veia e de 68,8% com prótese, tendo motivado 3 amputações supracondilianas. Conclusões: Os aneurismas poplíteos são mais prevalentes no sexo masculino, frequentemente bilaterais, e existe uma forte relação entre estes e aneurismas noutras localizações/megadistrofia arterial generalizada. O tratamento cirúrgico ideal é o realizado electivamente com material autólogo, sendo as taxas de patência com o recurso a material protésico bastante inferiores.
- Anti-MuSK-positive myasthenia gravis diagnosed during pregnancy: New challenges for an old diseasePublication . Neves, AR; Monteiro, P; Matos, A; Santos-Silva, IMyasthenia gravis is an autoimmune disorder affecting predominantly women in their reproductive age. The course of the disease during pregnancy is unpredictable, although it is more difficult to manage earlier in the gestation. Myasthenia gravis with antibodies against the muscle-specific receptor tyrosine kinase (anti-MuSK) has been described as a subtype of disease with more localised clinical features and a poorer response to treatment than acetylcholine receptor antibody (anti-AChR)-positive patients. Few cases have been reported in pregnant women, with deliveries being performed mainly by caesarean section. We report a successful case of vaginal delivery and describe our experience providing the first review of the management of this subtype of disease during pregnancy.
- Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control studyPublication . Tábuas-Pereira, M; Almendra, L; Almeida, MR; Durães, J; Pinho, AR; Matos, A; Negrão, L; Geraldo, A; Santana, IINTRODUCTION: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma. METHODS: We selected patients with a diagnosis in the ALS-FTLD spectrum who were tested for pathogenic mutations. Medical history was reviewed, to identify those with pathologically documented melanomas. RESULTS: We included 189 patients. Sixty-two had identified pathogenic mutations (39 C9ORF72). C9ORF72 carriers had a significantly higher risk of melanoma (odds ratio = 24.709; P < 0.007). There was no association with phenotype. CONCLUSIONS: These findings suggest that patients with a history of melanoma may have an increased probability of carrying a C9ORF72 repeat expansion. ALS or FTLD carriers of C9ORF72 should undergo surveillance for skin changes. Muscle Nerve 59:362-365, 2019.
- Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin genePublication . Negrão, L; Matos, A; Geraldo, A; Rebelo, OLimb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs' anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs' anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TCAP gene, already described in Brazilian patients.
- Median nerve ultrasound: A screening tool in the diagnosis of carpal tunnel syndrome?Publication . Santiago, T; Rovisco, J; Matos, A; Negrão, L; Pereira da Silva, JA
- Nova mutação pontual no gene da proteína da mielina periférica 22 com susceptibilidade para a compressão nervosa focalPublication . Negrão, L; Matos, A; Geraldo, A; Tavares, P; Costa, H
- Ocular neuromyotoniaPublication . Soares-Dos-Reis, R; Martins, AI; Brás, A; Matos, A; Bento, C; Lemos, JOcular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical diplopia (up to 40/day), either spontaneously or after sustained downward gaze. Between episodes she had a mild left fourth nerve palsy. Sustained downward gaze consistently triggered downward left eye tonic deviation, lasting around 1 min. MR scan of the brain was normal. She improved on starting carbamazepine but developed a rash that necessitated stopping the drug. Switching to lacosamide controlled her symptoms.
- Traumatismos vasculares revisão de 5 anosPublication . Antunes, LF; Baptista, A; Moreira, J; Pereira, R; Gonçalves, A; Anacleto, G; Alegrio, J; Fonseca, M; Gonçalves, O; Matos, AO presente trabalho pretende avaliar a casuística dos traumatismos vasculares agudos admitidos no Serviço de Cirurgia Vascular dos Hospitais da Universidade de Coimbra (HUC) durante o período de 5 anos, compreendido entre Julho de 2004 e Junho de 2009. Foram avaliados 97 doentes, sendo a principal causa de traumatismo as lesões iatrogénicas, seguida dos acidentes de viação. No grupo de doentes não relacionados com procedimentos coronários percutâneos verificou-se que no membro superior as artérias umeral e radial foram as mais afectadas, enquanto no membro inferior foram as artérias femoral superficial e poplítea. A isquémia aguda foi a principal forma de apresentação. Relativamente ao tratamento deste grupo de doentes, a RATT (ressecção e anastomose topo-topo) e o enxerto foram os mais utlizados no membro superior, enquanto a trombectomia e o bypass foram as técnicas mais aplicadas a nível do membro inferior. Não houve mortalidade mas a morbilidade foi elevada, predominando as lesões neurológicas nos traumatismos do membro superior, e a amputação nos do membro inferior. Os resultados deste trabalho foram concordantes com o que está publicado na literatura em que se demonstra um aumento progressivo dos traumatismos de origem iatrogénica.
- Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type IPublication . Jesus-Ribeiro, J; Farinha, C; Amorim, M; Matos, A; Reis, A; Lemos, J; Castelo-Branco, M; Januário, CBACKGROUND/AIMS: Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical form of NBIA type I. METHODS: Cross-sectional study, including patients with genetically confirmed NBIA type I and classified as atypical variant, who underwent ophthalmological examination with best corrected visual acuity (BCVA), optical coherence tomography (OCT), fundus autofluorescence (FAF), electroretinography (ERG), visual evoked potentials (VEP) and video-oculography. RESULTS: Seven patients with a mean BCVA of 0.12±0.14 logMAR were included. Only two patients showed structural evidence of advanced retinopathy in OCT and FAF, and there were no cases of optic atrophy. ERG data, however, showed abnormal scotopic and/or photopic responses in all patients. VEP were normal in all three patients. Ocular fixation was markedly unstable (eg, increased rate of saccadic pulses) in the majority of patients (5). Additional mild ocular motor disturbances included low gain pursuit (2), hypermetric saccades (1), low gain optokinetic (2) and caloric and rotatory responses (3). CONCLUSION: Functional retinal changes associated with marked instability of ocular fixation should be included in the clinical spectrum of NBIA, particularly in the atypical form.