Browsing by Author "Bordalo, D."
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- LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATIONPublication . Lopes, T.; Coelho, M.; Bordalo, D.; Bandeira, A.; Bandeira, A.; Vilarinho, L.; Fonseca, P.; Carvalho, S.; Martins, C.; Oliveira, J.Objective: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease. Case Description: A 16-month-hold girl who was followed in outpatient clinic due to axial hypotonia and delayed psychomotor development. Karyotype, auditory evoked potentials and ophthalmologic evaluation were normal. Evidence of hyperlactacidemia and hypocitrullinemia was detected in the patient. After performing brain magnetic resonance under anesthesia, hypotonia got worse, and the patient was hospitalized after an episode of cyanosis and apnea. The electroencephalogram showed no epileptiform activity. Neuroimaging revealed bilateral lenticular hyperintensity, especially in the putamen and in the left globus pallidus regions. Molecular analysis revealed an 8993T>G (MT-ATP6) mutation in the mitochondrial DNA. Comments: Between 10 and 30% of individuals with Leigh syndrome have mitochondrial DNA mutations. The decompensation after anesthetic intercurrences is typically associated with neurological deterioration and, in this case, increased the diagnosis suspicion. It is important to alert for similar cases and to reduce invasive diagnostic tests if the diagnosis is suspected.
- Patient-physician discordance in assessment of adherence to inhaled controller medication: a cross-sectional analysis of two cohortsPublication . Jácome, C.; Pereira, A.; Almeida, R.; Ferreira-Magalhães, Manuel; Couto, M.; Araujo, L.; Pereira, M.; Correia, M.; Loureiro, C.; Catarata, M.; Maia Santos, L.; Pereira, J.; Ramos, B.; Lopes, C.; Mendes, A.; Cidrais Rodrigues, J.; Oliveira, G.; Aguiar, A.; Afonso, I.; Carvalho, J.; Arrobas, A.; Coutinho Costa, J.; Dias, J.; Todo Bom, A.; Azevedo, J.; Ribeiro, C.; Alves, M.; Leiria Pinto, P.; Neuparth, N.; Palhinha, A.; Gaspar Marques, J.; Pinto, N.; Martins, P.; Todo Bom, F.; Alvarenga Santos, M.; Gomes Costa, A.; Silva Neto, A.; Santalha, M.; Lozoya, C.; Santos, N.; Silva, D.; Vasconcelos, M.; Taborda-Barata, L.; Carvalhal, C.; Teixeira, M.; Alves, R.; Moreira, A.; Sofia Pinto, C.; Morais Silva, P.; Alves, C.; Câmara, R.; Coelho, D.; Bordalo, D.; Fernandes, R.; Ferreira, R.; Menezes, F.; Gomes, R.; Calix, M.; Marques, A.; Cardoso, J.; Emiliano, M.; Gerardo, R.; Nunes, C.; Câmara, R.; Ferreira, J.; Carvalho, A.; Freitas, P.; Correia, R.; Fonseca, J.Objective: We aimed to compare patient's and physician's ratings of inhaled medication adherence and to identify predictors of patient-physician discordance. Design: Baseline data from two prospective multicentre observational studies. Setting: 29 allergy, pulmonology and paediatric secondary care outpatient clinics in Portugal. Participants: 395 patients (≥13 years old) with persistent asthma. Measures: Data on demographics, patient-physician relationship, upper airway control, asthma control, asthma treatment, forced expiratory volume in one second (FEV1) and healthcare use were collected. Patients and physicians independently assessed adherence to inhaled controller medication during the previous week using a 100 mm Visual Analogue Scale (VAS). Discordance was defined as classification in distinct VAS categories (low 0-50; medium 51-80; high 81-100) or as an absolute difference in VAS scores ≥10 mm. Correlation between patients' and physicians' VAS scores/categories was explored. A multinomial logistic regression identified the predictors of physician overestimation and underestimation. Results: High inhaler adherence was reported both by patients (median (percentile 25 to percentile 75) 85 (65-95) mm; 53% VAS>80) and by physicians (84 (68-95) mm; 53% VAS>80). Correlation between patient and physician VAS scores was moderate (rs=0.580; p<0.001). Discordance occurred in 56% of cases: in 28% physicians overestimated adherence and in 27% underestimated. Low adherence as assessed by the physician (OR=27.35 (9.85 to 75.95)), FEV1 ≥80% (OR=2.59 (1.08 to 6.20)) and a first appointment (OR=5.63 (1.24 to 25.56)) were predictors of underestimation. An uncontrolled asthma (OR=2.33 (1.25 to 4.34)), uncontrolled upper airway disease (OR=2.86 (1.35 to 6.04)) and prescription of short-acting beta-agonists alone (OR=3.05 (1.15 to 8.08)) were associated with overestimation. Medium adherence as assessed by the physician was significantly associated with higher risk of discordance, both for overestimation and underestimation of adherence (OR=14.50 (6.04 to 34.81); OR=2.21 (1.07 to 4.58)), while having a written action plan decreased the likelihood of discordance (OR=0.25 (0.12 to 0.52); OR=0.41 (0.22 to 0.78)) (R2=44%). Conclusion: Although both patients and physicians report high inhaler adherence, discordance occurred in half of cases. Implementation of objective adherence measures and effective communication are needed to improve patient-physician agreement.