Browsing by Author "Castro, J"
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- Changes in Nerve Conduction Studies Predate Clinical Symptoms Onset in Early Onset Val30Met Hereditary ATTR AmyloidosisPublication . Castro, J; Miranda, B; Castro, I; Conceição, IBackground and purpose: Hereditary amyloidosis related to transthyretin (ATTR) is a rare and progressive disease that, despite the phenotypic heterogeneity, a length-dependent sensorimotor axonal neuropathy (ATTR-PN) is the classic hallmark. Timely diagnosis is paramount for early treatment implementation. Methods: Sixty-nine asymptomatic gene carriers (Val30Met) were assessed during a 4-year period to identify those remaining asymptomatic versus those converting to ATTRV30M-PN. Conversion to symptomatic was defined as presenting with two definite symptoms of ATTRV30M-PN. Composite neurophysiological scores of sensory (SNS), motor (MNS), and sympathetic skin response (SSRS) amplitudes were used to assess neuropathy progression. We used mixed-effects modeling and ordinal logistic regression to assess neurophysiological evolution over time. Results: Of all asymptomatic gene carriers, 55.1% (n = 38/69) converted over the period of this analysis. The progression of the SNS relative to baseline was different between groups (asymptomatic gene carriers vs. converters), the decline being greater in the converter group (time × group interaction p = 0.040), starting about 2 years before symptom onset. No significant change occurred regarding MNS or SSRS. Moreover, the percentage of cases with an annual decline on the SNS of at least 25%, gradually and significantly increased in the converter group, representing a 1.92 increase in risk of developing symptoms for those with such reduction on the last evaluation. Conclusions: A simple composite neurophysiological sum score can predict the onset of ATTRV30M-PN symptoms by as much as 2 years, highlighting the importance of a systematic follow-up of asymptomatic gene carriers, allowing a timely diagnosis, and management of symptomatic disease.
- Cirurgia Reconstrutiva das Grandes Veias Intratorácicas,a Propósito de Quatro Casos ClínicosPublication . Abreu, R; Valentim, H; Martelo, F; Rodrigues, H; Bravio, I; Bastos Gonçalves, F; Ferreira, E; Albuquerque e Castro, J; Fragata, J; Mota Capitão, L; Castro, JA resseção e reconstrução dos grandes troncos venosos do tórax está indicada no tratamento dos sintomas de hipertensão venosa causados pelo Síndrome da Veia Cava Superior e para permitir a ressecção de tumores do mediastino que invadem a Veia Cava Superior (VCS) e os Troncos Venosos Braquiocefálicos (TVB), esquerdo e direito. Apresentamos quatro casos clínicos ilustrativos, operados entre 2010 e 2013. Todos eles sofriam de um tumor do mediastino com envolvimento dos grandes troncos venosos, cujo propósito foi a ressecção completa do tumor. Pretendemos avaliar os resultados em termos de melhoria da sintomatologia, complicações decorrentes dos procedimentos, permeabilidade das pontagens a curto e médio prazo e taxas de mortalidade. Utilizamos próteses de ePTFE aneladas para a realização das seguintes reconstruções vasculares: • pontagem em Y da veia subclávia esquerda e veia jugular interna esquerda para o TVB esquerdo; • duas pontagens do início do TVB esquerdo para o apêndice auricular direito; • pontagem do TVB esquerdo para o apêndice auricular direito e uma pontagem do TVB direito para a VCS. Todos os doentes tiveram alta hospitalar e todas as pontagens se encontravam permeáveis à data da alta e aos 30 dias. Ocorreram dois casos de trombose tardia, contudo os doentes mantiveram-se assintomáticos. A nossa série mostra a exequibilidade destas cirurgias, tecnicamente complexas, que são um excelente exemplo dos benefícios da colaboração multidisciplinar entre cirurgiões vasculares e torácicos.
- Lesões do Sistema Nervoso Central na Síndroma de Adams-OliverPublication . Gomes, L; Castro, J; Matos, M; Nunes, A; Furtado, J; Barrueco, MCReportam-se dois casos de doentes do sexo feminino com dois anos de idade e síndrome Adams-Oliver, que se caracteriza por um defeito congénito do escalpe e alterações malformativas congénitas dos membros, a que se associaram malformações e complicações do SNC. O diagnóstico foi feito à nascença e a aplasia cútis congénita caracterizava-se não só por extenso defeito no escalpe, mas também no osso subjacente, com exposição dos seios durais. A variabilidade das duas situações clinicas, traduziu-se essencialmente pela exetnsão e gravidade das lesões osteocutâneas dos membros e do crânio, pelas anomalias do SNC e pelo tipo de intercorrências. Numa criança detectou-se por TC e RM hemimegalencefalia focal do hemisfério direito e a outra apresentou durante o decuros da doença lesões encefaloclásticas e herniação encefálica, que necessitou de correcção cirúrgica. Ambas sobreviveram, mas o diagnóstico de lesão malformativa do SNC e a ocorrência de lesões encefaloclásticas modificaram de forma determinante o prognóstico inicial.
- Ophthalmoplegic Migraine and Infundibular Dilatation of a Cerebral ArteryPublication . Vieira, JP; Castro, J; Gomes, LB; Jacinto, S; Dias, AIOphthalmoplegic migraine (OM) is a childhood disorder of uncertain etiology manifesting recurrent unilateral headache associated with a transitory oculomotor (usually IIIrd nerve) palsy. Recent publications emphasize the finding on MRI of contrast enhancement in the IIIrd nerve suggesting that OM may be a recurrent inflammatory neuropathy. We report the case of a 7-year-old boy with typical symptoms of this disorder. Angio MR and Angio CT revealed the presence of an infundibular dilatation of a perforating branch of the posterior cerebral artery adjacent to the symptomatic IIIrd nerve. We speculate that this and perhaps other cases of OM may have a different pathophysiology related to compression of the IIIrd nerve by an adjacent vascular structure that could activate the trigeminovascular system and produce migrainous pain.
- The Cutaneous Silent Period in Motor Neuron DiseasePublication . Castro, J; Swash, M; Carvalho, MObjective: To investigate the cutaneous silent period (CSP) by measuring its onset latency, duration and amount signal suppression in patients with motor neuron disease (MND) grouped according to the intensity of upper motor neuron involvement (UMN), and to test the effect of contralateral hand contraction. Methods: Painful stimulation was applied at the V finger, and contraction recorded from the abductor digiti minimi (ADM) muscle (baseline condition). Afterwards, CSP was studied during strong contralateral ADM contraction (test condition). 10-15 consecutive traces were recorded for each condition, signals were rectified, averaged, and analyzed offline. Results: 46 patients were investigated, 15 with progressive muscular atrophy (PMA), 16 with typical amyotrophic lateral sclerosis (ALS), 15 with primary lateral sclerosis/predominant UMN-ALS (PLS+UMN-ALS), and 28 controls. In the baseline condition, all MND groups showed delayed onset latencies (p = 0.001). There was no significant difference in the CSP duration. Suppression was lower in the PLS + UMN-ALS group (p = 0.004). In the control group, contralateral contraction did not change CSP, but onset latency shortened significantly in the PMA group. Conclusions: CSP onset latency is delayed in all investigated groups of MND, including in PMA, indicating subclinical UMN involvement. Changes in CSP can indicate UMN lesion in MND. Significance: CSP should be explored to identify UMN involvement in MND.