Browsing by Author "Alves, C."
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- Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of 106 Patients in 46 FamiliesPublication . Coutinho, P.; Barros, J.; Zemmouri, R.; Guimarães, J.; Alves, C.; Chorão, R.; Lourenço, E.; Ribeiro, P.; Loureiro, J.; Santos, J.; Hamri, A.; Paternotte, C.; Hazan, J.; Silva, M.; Prud'homme, F.; Grid, D.Background Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. Objective To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies. Results Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families. Five phenotypes are defined: (1) pure early-onset families, (2) pure late-onset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia. Six additional families have specific complex presentations, each of which is unique in the present series. Pyramidal signs in the upper limbs and pes cavus are frequent findings, while pseudobulbar signs, including dysarthria, dysphagia, and brisk jaw jerks, are more frequent in the complex forms. The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families. Two of the Portuguese kindreds with complex forms (one with mental retardation and the other associated with hypoplasia of the corpus callosum) showed linkage to the locus recently identified on chromosome 16. Conclusions Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
- 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.
- O perfil clínico-epidemiológico da cirrose hepáticaPublication . Alves, C.; Pedroto, I.