Browsing by Issue Date, starting with "2016-11"
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- Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiencyPublication . Ribeiro, C; Macário, MC; Viegas, AT; Pratas, J; Santos, MJ; Simões, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, MLeigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.
- Predictors of first-line treatment persistence in a Portuguese cohort of relapsing-remitting multiple sclerosisPublication . Correia, I; Marques, IB; Sousa, M; Batista, S; Ferreira, R; Nunes, C; Macário, C; Cunha, L; Sousa, LTreatment persistence in first-line injectable disease-modifying therapies (DMT) for relapsing-remitting multiple sclerosis (RRMS) is an important indicator of effectiveness. Identifying predictors of treatment discontinuation is important as there are other therapies currently available and a growing range of emerging drugs. We report a retrospective study of RRMS and clinically isolated syndrome patients followed in a University Hospital during a 13-year period with the objective of identifying predictors of treatment persistence. An evaluation of persistence on the first DMT, rates of DMT discontinuation, and reasons and predictors of discontinuation was performed. A total of 410 patients were included, 69% female, with mean disease duration of 37.8months, mean age of 34.2years and mean follow-up time of 6.1years. The first DMT was glatiramer acetate (GA) in 27.56% of patients, interferon (IFN) β-1a intramuscular in 26.34%, IFNβ-1b in 26.10%, IFNβ-1a22 in 13.66% and IFNβ-1a44 in 6.34%. Treatment was discontinued in 16.34% of patients after 1year of treatment and in 50.24% of patients in the total follow-up time, with a mean time for discontinuation of 39.80months. Higher baseline Expanded Disability Status Scale score was an independent predictor of treatment discontinuation (hazard ratio 1.35, p=0.002). After the first year, treatment persistence was 90.74% for IFNβ-1a-IM, 88.46% for IFNβ-1a44, 83.18% for IFNβ-1b, 83.19% for GA and 69.64% for IFNβ-1a22 (p=0.014). Lower frequency of administration was associated with higher persistence rates. The most common reason for treatment discontinuation was lack of efficacy in all DMT subgroups.
- Apathy in multiple sclerosis: gender mattersPublication . Novo, AM; Batista, S; Tenente, J; Nunes, C; Macário, C; Sousa, L; Gonçalves, FApathy has been recognized as a frequent symptom in multiple sclerosis (MS) but uncertainty remains about its prevalence and clinical correlates. Therefore, the objective of this work was to assess the prevalence of apathy in patients with MS and to identify clinical and demographic correlates. A case-control study with 30 patients and 30 healthy controls matched for age, gender and education was performed. Apathy diagnosis was established using Robert et al.'s criteria. Additionally, apathy was assessed using the 10-item short version of the clinical-rated Apathy Evaluation Scale (AES-C-10). The Beck Depression Inventory (BDI), Modified Fatigue Impact Scale (MFIS), and Montreal Cognitive Assessment (MoCA) were used to evaluate depression, fatigue and cognitive impairment, respectively. Apathy prevalence in MS patients was 43.3%. Patients with MS had higher AES-C-10 scores than controls (13.9 vs. 12.0, p=0.015). Patients with apathy presented a higher proportion of males (53.8% vs. 11.8%, p=0.02), lower educational level (53.8% vs. 11.8% of patients with up to 9years of education), higher scores on cognitive dimension of MFIS (18.0 vs. 8.0, p=0.048) and BDI (13.0 vs. 7.0, p=0.035) and worse performance on MoCA (24.0 vs. 26.0, p=0.028). Gender was the only independent predictor of apathy, with men presenting a higher risk compared to women (OR: 9.62; 95%CI: 1.02-90.61; p=0.048). In conclusion, apathy is a common neuropsychiatric disorder in MS and it is probably underdiagnosed. Male patients seem to have an increased risk of apathy, and this finding may be related to the generally more unfavorable course of MS in men.
- Stressors in anaesthesiology: development and validation of a new questionnaire: A cross-sectional study of Portuguese anaesthesiologistsPublication . Lapa, TA; Carvalho, SA; Viana, JS; Ferreira, PL; Pinto-Gouveia, JBACKGROUND: Stress in anaesthesiologists is a common and multifactorial problem related to patients, colleagues and organisations. The consequences of stress include depression, work-home conflicts and burnout. Reduction in stress can be achieved by reducing the number and magnitude of stressors or by increasing resilience strategies. OBJECTIVES: We have created the self-reporting 'Stress Questionnaire in Anaesthesiologists' (SQA), to qualify the sources of stress in anaesthesiologists' professional lives, and measure the level of associated stress. Our study aimed to develop and validate the SQA using exploratory and confirmatory factor analyses. Construct validity was assessed through correlations between SQA and negative psychological outcomes as well as by comparing perception of stress among different known groups. DESIGN: A questionnaire-based cross-sectional, correlational, observational study. SETTINGS: The study was conducted between January 2014 and December 2014, throughout different anaesthesia departments in Portuguese hospitals. Data collection was from a representative subset at one specific time point. PARTICIPANTS: A sample of 710 anaesthesia specialists and residents from Portugal. MAIN OUTCOME MEASURES: The primary outcome measure was to identify specific stressors in anaesthesiologists. Secondary outcome was the association between stressors and burnout, depression symptoms, anxiety, stress, rumination, satisfaction with life and functional impairment. RESULTS: The exploratory analysis showed the SQA is a tri-dimensional instrument and confirmatory analysis showed the tri-dimensional structure presented good model fit. The three dimensions of SQA correlated positively with other stress measures and burnout, but negatively with satisfaction with life. CONCLUSION: SQA is a well adjusted measure for assessing stressors in anaesthesia physicians and includes clinical, organisational and team stress factors. Results showed that the SQA is a robust and reliable instrument.