Repository logo

Browsing by Issue Date, starting with "2013-03-19"

Filter results by year or month
Now showing 1 - 3 of 3
  • Atraso mental: denominador comum dos défices do metabolismo da creatina
    Publication . Valongo, Carla
    O atraso mental (AM) afeta cerca de 3% da população dos países ocidentais. Na grande maioria dos casos as causas genéticas inerentes ao AM ainda não se encontram esclarecidas. Os doentes com défice do metabolismo da creatina têm como denominador comum o AM/atraso de desenvolvimento bem como atraso de linguagem, epilepsia e autismo. Estes défices englobam um grupo de doenças tratáveis: défices da biossíntese da creatina (envolve as enzimas arginina:glicina amidinotransferase e guanidinoacetato metiltransferase) e do transportador de creatina cerebral (défice em SLC6A8/CT1). Desde 2002 estudamos 6761 urinas de indivíduos com AM e identificamos 23 indivíduos com défices do metabolismo da creatina: oito com défice em guanidinoacetato metiltransferase (GAMT) e 15 com défice em SLC6A8. A análise molecular permitiu identificar a mesma mutação em todos os doentes com défice em GAMT, o que sugere que podemos estar perante um efeito fundador na nossa população. Os doentes com défice no SLC6A8 apresentaram uma grande heterogeneidade molecular. Sendo a prevalência destas patologias de 1:294, na nossa casuística, devemos ter em consideração estes défices quando estamos perante indivíduos com AM de etiologia desconhecida, epilepsia e atraso de linguagem. O défice em SLC6A8, sendo uma patologia ligada ao X, também deve ser tido em conta em todos os indivíduos do sexo masculino com AM e X-frágil negativo.
    2013-03-19Conference object Open access Show more
  • Efficacy of dignity therapy for depression and anxiety in terminally-ill patients: early results of a randomized controlled trial
    Publication . Julião, M.; Barbosa, A.; Oliveira, F.; Nunes, Baltazar; Vaz Carneiro, A.
    Objective: Dignity therapy (DT) is a short-term psychotherapy developed for patients living with a life-limiting illness. Our aim was to determine the influence of DT on symptoms of depression and anxiety in people with a life-threatening disease with high level of distress, referred to an inpatient palliative care unit. Method: This was an open-label randomized controlled trial. Sixty terminally ill patients were randomly assigned to one of two groups: intervention group (DT+ standard palliative care [SPC]) or control group (SPC alone). The main outcomes were symptoms of depression and anxiety, measured with the Hospital Anxiety and Depression Scale, assessed at baseline, day 4, day 15, and day 30 of follow-up. Results: Of the 60 participants, 29 were randomized to DT and 31 to SPC. Baseline characteristics were similar between the two groups. DT was associated with a significant decrease in depressive symptoms at day 4 and day 15 (mean = −4.46, 95% CI, −6.91–2.02, p = 0.001; mean= −3.96, 95% CI, −7.33 to −0.61; p = 0.022, respectively), but not at day 30 (mean = −3.33, 95% CI, −7.32–0.65, p = 0.097). DT was also associated with a significant decrease in anxiety symptoms at each follow-up (mean= −3.96, 95% CI, −6.66 to −1.25, p = 0.005; mean= −6.19, 95% CI, −10.49 to −1.88, p = 0.006; mean = −5.07, 95% CI, −10.22 to −0.09, p = 0.054, respectively). Significance of results: DT appears to have a short-term beneficial effect on the depression and anxiety symptoms that often accompany patients at the end of their lives. Future research with larger samples compared with other treatments is needed to better understand the potential benefits of this psychotherapy.
    2013-03-19Journal article Open access Show more
  • 2013-03-19Lecture Restricted access Show more