This study aimed to assess the quality of life (QOL) experienced by adolescents and young adults with congenital heart disease (CHD) and to determine which factors negatively affect adjustment and which factors increase resilience. The participants in the study were 74 patients with CHD (41 males and 33 females) ranging in age from 12 to 26 years (mean age, 18.76 ± 3.86 years). Demographic information and a complete clinical history were obtained. The participants were interviewed regarding topics such as social support, family educational style, selfimage, and physical limitations. They responded to questions in a standardized psychiatric interview (SADS-L) and completed a self-report questionnaire (WHOQOL-BREF) for assessment of QOL. Compared with the Portuguese population as a whole, the study patients had better QOL, especially with regard to the environmental dimension (t = 3.754; P = 0.000) and social relationships (t = 2.333; P = 0.022). Patients who had undergone surgery experienced poorer QOL in the physical dimension (t = -1.989; P = 0.050), in social relationships (t = -2.012; P = 0.048) and overall (Mann-Whitney U = 563.000; P = 0.037). Social support played a positive role in the QOL of the patients, both in the physical dimension (t = 3.287; P = 0.002) and in social relationships (t = 3.669; P = 0.000). A higher school achievement also was associated with higher levels of QOL overall (Mann-Whitney U = 457.000; P = 0.046) as well as in the physical (t = 2.045; P = 0.045) and environmental (t = 2.413; P = 0.018) dimensions. Physical limitations had a detrimental impact on general QOL (Mann-Whitney U = 947.500; P = 0.001) and on the physical (t = -2.910; p = 0.005) and psychological (t = -2,046; P = 0.044) dimensions. Patients with CHD tended to perceive QOL as better when their social networks were supportive.

Objectives: To assess the perception of the quality of life of adolescents and young adults with congenital heart disease and to examine the variables that have a negative impact on it and that add a resilience effect. Methods: A total of 22 male and 18 female patients, aged 12-26 years, of whom 27 were admitted to surgery and 13 were not, participated in this study. All patients had complete medical records and were interviewed once; demographic and clinical data were collected, and patients filled a questionnaire on quality of life, the WHOQOL-BREF, and underwent an interview on social support, educational style, self-image, functional limitations, and emotional adjustment. Results/Conclusions: Our patients showed a better perception of quality of life than did the general population, on the basis of psychological, social relationship and environment scales. Older patients hold a better perception of quality of life on the psychological scale. Cyanosis did not show any significant impact over perception of quality of life decay; however, the number of surgical procedures and the persistence of moderate-to-severe residual injuries had considerable detrimental effect. Social support had an impact on increasing resilience, promoting adjustment to illness. Several factors may play a role in adjustment to congenital heart disease, either improving the perception of quality of life or worsening it. We may conclude that some buffer variables on congenital heart disease may play roles in increasing the perception of quality of life of patients during their lifetime, social support probably explaining why the perception of quality of life is better than in the normal population. The number of surgeries and the moderate-to-severe residual injuries, however, reverted that effect.

No abstract

Empowerment is usually defined as a process of promoting the sense of competence and control as a means of capacitating individuals to improve their life conditions. The aim of this study was to describe the psychometric qualities of the Portuguese Rheumatic Disease Empowerment Scale (P-RES-8), an 8-item measure of empowerment for patients with rheumatic disease. The study enrolled 81 patients with rheumatic diseases. Participants filled in the P-RES-8, the Portuguese validated version of the Medical Outcomes Survey Short Form-36 (MOS SF-36), and a questionnaire including sociodemographic data and disease-related variables. To evaluate the dimensionality of the P-RES-8 scale, an exploratory factor analysis was conducted, and its reliability was assessed by Cronbach’s α. The validity of this measure was assessed by analyzing the correlations between empowerment, quality of life, and other relevant variables (education level and illness duration). The P-RES-8 proved to be a reliable 1-dimensional measure of empowerment in patients with rheumatic disease (Cronbach’s α = 0.94). Empowerment was positively related to quality of life. Particularly, the findings showed positive associations between empowerment, assessed by the P-RES-8, and each of the 8 domains of the MOS SF-36. The associations were stronger for mental health and general health perception. The results also revealed that empowerment is positively associated with a higher education and more years after the diagnosis. The findings provide support for the adequacy of the P-RES-8 as a measure of empowerment in patients with rheumatic disease. Moreover, empowerment showed to be an important variable in the assessment of patients’ quality of life.

ResumoObjetivos: Caracterizar a população de adolescentes e jovens adultos com cardiopatias congénitas (CC) ao nível do seu ajustamento psicossocial e morbilidade psiquiátrica, bem como avaliar a qualidade de vida (QV), para perceber quais são as variáveis com impacto na vida e na adaptação à doença. População e métodos: Participaram 74 pacientes com CC, sendo 41 do sexo masculino e 33 do sexo feminino, com idades entre 12-26 (média = 18,76 ± 3,86). Foram recolhidos os dados demográficos e clínicos mais relevantes dos pacientes e foi aplicado um conjunto de instrumentos, incluindo uma entrevista semiestruturada sobre tópicos de suporte social, estilo de educação na família, autoimagem e limitações físicas, uma entrevista psiquiátrica estandardizada e questionários para avaliar o ajustamento psicossocial na forma de autorrelato (YSR e ASR) e relato dos cuidadores (CBCL e ABCL), bem como um questionário de avaliação da qualidade de vida (WHOQOL-BREF). Resultados: O sexo feminino relatou mais ansiedade/depressão (u = 952,500; p = 0,003), alterações do pensamento (u = 929,500; p = 0,005) e comportamento agressivo (u = 999,000; p = 0,000). Pacientes com CC complexas relataram mais alterações de pensamento (u = 442,000; p = 0,027) e internalização (u = 429,000; p = 0,021). Comparativamente com a população portuguesa, os nossos participantes apresentaram melhor QV nos domínios relações sociais (t = 2,333; p = 0,022) e ambiente (t = 3,754; p = 0,000). Os pacientes que não foram submetidos a intervenções cirúrgicas revelaram melhor QV nos domínios físico (t = −1,989; p = 0,050), de relações sociais (t = −2,012; p = 0,048) e QV geral (u = 563,000; p = 0,037). A presença de um melhor suporte social está relacionada com uma melhor QV nos pacientes em todos os domínios avaliados, com destaque para o físico (t = 3,287; p = 0,002) e relações sociais * Autor para correspondência. Correio eletrónico: memilia.areias@cespu.pt (M.E.G. Areias).

Hemophilia A is a blood clotting disorder characterized by a mutation of the factor VIII (FVIII) gene, leading to a deficiency in FVIII. It is the most common type of hemophilia. Inheritance is X-linked; hence males are affected while females are carriers or very rarely display a mild phenotype. 1:10,000 males are affected. We describe a child with a rare association of congenital hemophilia A and acquired severe aplastic anemia (SAA) who was successfully treated with allogeneic bone marrow transplantation (allo-BMT). A 6-year old male, SG, was diagnosed with hemophilia A (FVIII 3%) at 6-month old when he presented with right knee hemarthroses and psoas muscle hematoma. His maternal grandfather was hemophiliac. Since his diagnose, FVIII was infused on average once a month, generally due to hemarthroses and bleeding secondary to trauma. In July 2004, pt presented with progressive pancytopenia. In January 2005 CBC showed: Hb 7g/dl, Ht 22%, WBC 1000/μl (absolute neutrophil count 250/μl) and PLT 23,000/μl. Bone marrow aspirate and biopsy were consistent with SAA. DEB test was negative. Since then he was poly-transfused with PLT and RBC due to increased bleeding tendency, especially hematoma and petechiae. In July 2005 he underwent an allo-BMT from his HLA-identical non-hemophiliac 5-year old brother. For catheter implantation pt received PLT transfusion to achieve a PLT level greater than 50,000/mm3 and 60 units/kg of FVIII to achieve an initial level of 100% followed by 30 units/kg every 12 hours to maintain it continuously at greater than 50% for 3 days. Conditioning consisted of cyclophosphamide 50mg/day from D-5 to D-2 and thymoglobulin 5mg/kg from D-3 to D-1. Cyclosporine and a short course of methotrexate were given for GVHD prophylaxis. 3,5x108 mononuclear cells/kg were infused. Allo-BMT was uneventful. Neutrophil engrafted on D+15 and megakaryocyte (>50,000/mm3) on D+38. During the transplant PLT were kept at greater than 30,000/mm3 with PLT transfusion every 2 days. FVIII was infused when there was more than 2 cm increase in the knee perimeter or any other abnormal bleeding, especially at the catheter implantation site. 6 months after allo-BMT the child is well, with a normal CBC and coagulation tests similar to pre-BMT. Hemophilia and AA association is rare, and to our knowledge, this is the first allo-BMT in a hemophiliac patient to be reported.

Human cognitive-motor performance largely depends on how brain resources are allocated during simultaneous tasks. Nonetheless, little is known regarding the age-related changes in electrocortical activity when dual-task during walking presents higher complexity levels. Thus, the aim of this study was to investigate whether there are distinct changes in walking performance and electrocortical activation between young and older adults performing simple and complex upper limb response time tasks. Physically active young (23 ± 3 years, n = 21) and older adults (69 ± 5 years, n = 19) were asked to respond as fast as possible to a single stimuli or a double stimuli appearing on a touch screen during standing and walking. Response time, step frequency, step frequency variability and electroencephalographic (EEG) N200 and P300 amplitudes and latencies from frontal central and parietal brain regions were recorded. The results demonstrated that older adults were 23% slower to respond to double stimuli, whereas younger adults were only 12% slower (p < 0.01). The longer response time for older adults was accompanied by greater step frequency variability following double-stimuli presentations (p < 0.01). Older adults presented reduced N200 and P300 amplitudes compared to younger participants across all conditions (p < 0.001), with no effects of posture (standing vs walking) on both groups (p > 0.05). More importantly, the P300 amplitude was significantly reduced for older adults when responding to double stimuli regardless of standing or walking tasks (p < 0.05), with no changes in younger participants. Therefore, physically active older adults can attenuate potential walking deficits experienced during dual-task walking in simple cognitive tasks. However, cognitive tasks involving decision making influence electrocortical activation due to reduced cognitive resources to cope with the task demands.

Inherited thrombophilias are a group of clinical conditions in which there is a genetic variant defect associated with a predisposition to thrombosis. Genetic testing for inherited thrombophilias has been used in the diagnosis of specific thrombophila at our centre for the last 20 years, this work will summarize our experience.