Browsing by Author "Rodrigues, L"
Now showing 1 - 6 of 6
Results Per Page
Sort Options
- Lockdown Measures for COVID-19 Outbreak and Variation in Physical Activity in Patients with Heart Failure and Cardiac Implantable DevicesPublication . Silva Cunha, P; Laranjo, S; Lourenço, A; Rodrigues, L; Cardoso, I; Portugal, G; Valente, B; Delgado, AS; Cruz Ferreira, R; Abreu, A; Oliveira, MAims: The present study analysed the patterns of physical activity pre-, during and post-lockdown measures for COVID-19 pandemic in patients with chronic heart failure (CHF) and cardiac implantable electronic devices (CIED) under remote monitoring (RM), and assessed the physical activity patterns during these periods. Methods: The raw data from 95 patients with CHF (age 67,7 ± 15,1 years, 71,5% male) corresponding to 2238 RM transmissions of the Medtronic Carelink™ network platform was obtained. The physical exercise profiles and the impact of the lockdown measures on the physical behaviour during and after the measures were analysed. According to the level of activity duration in the pre-lockdown, lockdown and post-lockdown periods, the patterns of behaviour were identified (non-recoverees, incomplete recoverees, recoverees and full-recoverees). Conclusion: RM of CHF patients with CIED using the Carelink™ network is useful for close follow-up and identification of heart failure risk status variations. After relieving the confinement measures there were two groups of patients that did not recover the previous physical activity levels. Physical inactivity in patients with CHF can have a significant impact on outcomes.
- Phenylketonuria in Portugal: Genotype–Phenotype Correlations Using Molecular, Biochemical, and Haplotypic AnalysesPublication . Ferreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcão, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E; Campos, T; Rodrigues, E; Garcia, P; Diogo, L; Ferreira, AC; Sequeira, S; Silva, F; Rodrigues, L; Gaspar, A; Janeiro, P; Amorim, A; Vilarinho, LBackground: The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease. Methods: In this report, the biochemical and genetic findings performed in 223 patients diagnosed through the Portuguese Neonatal Screening Program (PNSP) are presented. Results: Overall, the results show that a high overlap exists between different types of variants and phenylalanine levels. Molecular analyses reveal a wide mutational spectrum in our population with a total of 56 previously reported variants, most of them found in compound heterozygosity (74% of the patients). Intragenic polymorphic markers were used to assess the haplotypic structure of mutated chromosomes for the most frequent variants found in homozygosity in our population (p.Ile65Thr, p.Arg158Gln, p.Leu249Phe, p.Arg261Gln, p.Val388Met, and c.1066-11G>A). Conclusion: Our data reveal high heterogeneity at the biochemical and molecular levels and are expected to provide a better understanding of the molecular basis of this disease and to provide clues to elucidate genotype-phenotype correlations.
- Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic AnalysesPublication . Ferreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcão, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E; Campos, T; Rodrigues, E; Garcia, P; Diogo, L; Ferreira, AC; Sequeira, S; Silva, F; Rodrigues, L; Gaspar, A; Janeiro, P; Amorim, A; Vilarinho, LThe impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease.
- Primary Pulmonary Tumor in an AdolescentPublication . Rodrigues, L; Domingues, R; Amaral, D; Cavaco, JPrimary lung tumors in the pediatric age group are rare, histologically diverse and have different therapeutic approaches. The inflammatory myofibroblastic tumor of the lung accounts for 0.04% - 1.2% of all lung tumors, is more common in children and young adults and its etiology is unknown. The diagnosis is difficult as clinical and radiological findings are highly variable. We report a case of a 15-year-old adolescent who presented with a single pulmonary nodule on a chest radiograph, in the context of a respiratory infection, and whose etiological investigation revealed an inflammatory myofibroblastic tumor of the lung. Atypical resection was performed by video-assisted thoracoscopic surgery, with full recovery. We highlight the rarity of this entity, the need for a high suspicion index and the diagnostic investigation undertaken to reach a definitive diagnosis and a successful outcome.
- A Rare Variant of the Ulnar Artery with Important Clinical Implications: a Case ReportPublication . Casal, D; Pais, D; Toscano, T; Bilhim, T; Rodrigues, L; Figueiredo, I; Aradio, S; Almeida, MA; Goyri-O'Neill, JBACKGROUND: Variations in the major arteries of the upper limb are estimated to be present in up to one fifth of people, and may have significant clinical implications. CASE PRESENTATION: During routine cadaveric dissection of a 69-year-old fresh female cadaver, a superficial brachioulnar artery with an aberrant path was found bilaterally. The superficial brachioulnar artery originated at midarm level from the brachial artery, pierced the brachial fascia immediately proximal to the elbow, crossed superficial to the muscles that originated from the medial epicondyle, and ran over the pronator teres muscle in a doubling of the antebrachial fascia. It then dipped into the forearm fascia, in the gap between the flexor carpi radialis and the palmaris longus. Subsequently, it ran deep to the palmaris longus muscle belly, and superficially to the flexor digitorum superficialis muscle, reaching the gap between the latter and the flexor carpi ulnaris muscle, where it assumed is usual position lateral to the ulnar nerve. CONCLUSION: As far as the authors could determine, this variant of the superficial brachioulnar artery has only been described twice before in the literature. The existence of such a variant is of particular clinical significance, as these arteries are more susceptible to trauma, and can be easily confused with superficial veins during medical and surgical procedures, potentially leading to iatrogenic distal limb ischemia.
- Type 3 Endoleak Following Chest Trauma in a Patient with a Hybrid Replacement of the Thoracic AortaPublication . Cruz Tomás, A; Laranjeira Santos, A; Rodrigues, L; Fragata, J