Browsing by Author "Gomes, D."
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- Bilirubin is independently associated with oxidized LDL levels in young obese patientsPublication . Nascimento, H.; Alves, A.; Coimbra, S.; Catarino, C.; Gomes, D.; Bronze-da-Rocha, E.; Costa, E.; Rocha-Pereira, P.; Aires, L.; Mota, J.; Mansilha, H.; Rêgo, C.; Santos-Silva, A.; Belo, L.BACKGROUND: Bilirubin can prevent lipid oxidation in vitro, but the association in vivo with oxidized low-density lipoprotein (Ox-LDL) levels has been poorly explored. Our aim is to the association of Ox-LDL with total bilirubin (TB) levels and with variables related with metabolic syndrome and inflammation, in young obese individuals. FINDINGS: 125 obese patients (13.4 years; 53.6% females) were studied. TB, lipid profile including Ox-LDL, markers of glucose metabolism, and levels of C-reactive protein (CRP) and adiponectin were determined. Anthropometric data was also collected. In all patients, Ox-LDL correlated positively with BMI, total cholesterol, LDLc, triglycerides (TG), CRP, glucose, insulin and HOMAIR; while inversely with TB and HDLc/Total cholesterol ratio (P < 0.05 for all). In multiple linear regression analysis, LDLc, TG, HDLc and TB levels were significantly associated with Ox-LDL (standardized Beta: 0.656, 0.293, -0.283, -0.164, respectively; P < 0.01 for all). After removing TG and HDLc from the analysis, HOMAIR was included in the regression model. In this new model, LDLc remained the best predictor of Ox-LDL levels (β = 0.665, P < 0.001), followed by TB (β = -0.202, P = 0.002) and HOMAIR (β = 0.163, P = 0.010). CONCLUSIONS: Lower bilirubin levels may contribute to increased LDL oxidation in obese children and adolescents, predisposing to increased cardiovascular risk.
- Recomendações para o Diagnóstico da Forma Tardia da Doença de PompePublication . Brito-Avô, L.; Alves, J.; Costa, J.; Valverde, A.; Santos, L.; Araújo, F.; Marinho, A.; Oliveira, A.; Gomes, D.INTRODUCTION: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. OBJECTIVE: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. MATERIAL AND METHODS: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. RECOMMENDATIONS: Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.
- Síndrome de Miller Fisher numa criançaPublication . Gomes, D.; Leite, F.; Andrade, N.; Vasconcelos, M.; Robalo, C.; Fineza, I.Introdução: O síndrome de Miller Fisher, variante do síndrome de Guillain-Barré, é uma doença desmielinizante inflamatória aguda, que é rara em idade pediátrica. O seu diagnóstico é baseado na tríade oftalmoplegia, ataxia e arreflexia. Em cerca de metade dos casos está descrita uma intercorrência infecciosa precedendo os sintomas neurológicos em cinco a dez dias. Caso clínico: Os autores relatam o caso de uma criança de cinco anos de idade com disartria, ataxia e oftalmoplegia após episódio de gastroenterite aguda na semana prévia ao início da sintomatologia. À observação apresentava disartria, parésia bilateral do VI par, fraqueza muscular distal (de predomínio nos membros direitos) com ausência dos reflexos osteotendinosos aquilianos. A investigação analítica e imagiológica inicial não revelou alterações. O resultado do electromiografia foi compatível com poliradiculoneuropatia subaguda. O diagnóstico de síndrome Miller Fisher foi efectuado após exclusão de outras etiologias. A evolução clínica foi favorável, sem insuficiência respiratória ou outras complicações, com melhoria gradual dos défices neurológicos. Houve recuperação da ataxia ao fim de quatro semanas e da oftalmoplegia três meses após o diagnóstico. Conclusões: O síndrome Miller Fisher é extremamente raro em idade pediátrica e constitui um desafi o diagnóstico neste grupo etário. O prognóstico é habitualmente favorável. A propósito deste caso são discutidos os principais diagnósticos diferenciais. ABSTRACT Background: Miller Fisher syndrome, a variant of Guillain-Barré syndrome, is an acute inflammatory demyelinating disease that is rare in children. The diagnosis is based on the triad of ophthalmoplegia, ataxia and areflexia. In about half of the cases there is an infectious complication preceding neurologic symptoms in five to ten days. Case report: We describe the case of a five year-old boy who presented with a three-day history of diplopia, dysarthria and gait disturbance following an acute gastroenteritis. On examination he was found to have ataxia, areflexia and ophthalmoplegia. The laboratorial and imaging investigations were normal. The results of electromyogram were consistent with subacute polyradiculoneuropathy. The diagnosis of Miller Fisher syndrome was made after the exclusion of other conditions. The clinical outcome was favorable without respiratory failure or other complications, with gradual improvement of neurological deficits. Ataxia was restored in four weeks and ophthalmoplegia improved three months later. Conclusions: Miller Fisher syndrome is extremely rare in children and is a diagnostic challenge at those ages. Outcome is usually good. This report outlines the frequency of Miller Fisher syndrome and lists the differential diagnoses that should be considered.