RESUMO
We report on an adult patient with citrin deficiency in Hong Kong, in whom a novel mutation was identified. The patient presented with recurrent hyperammonaemic encephalopathy due to impairment of the liver urea cycle enzyme argininosuccinate synthetase. This autosomal recessive condition is also characterised by interesting food preferences, notably aversion to carbohydrates and craving for protein-rich and/or lipid-rich foods, as well as neuropsychiatric symptoms. Plasma amino acid analysis is very useful in revealing urea cycle disorders, and mutational analysis of the SLC25A13 gene can confirm the diagnosis.
Assuntos
Encefalopatias Metabólicas Congênitas/genética , Proteínas de Ligação ao Cálcio/deficiência , Hiperamonemia/etiologia , Proteínas de Transporte da Membrana Mitocondrial/genética , Transportadores de Ânions Orgânicos/deficiência , Adulto , Proteínas de Ligação ao Cálcio/genética , Citrulinemia/complicações , Confusão/etiologia , Dieta , Humanos , Masculino , Mutação , Transportadores de Ânions Orgânicos/genéticaRESUMO
OBJECTIVES: Based on the model by Tsang et al. (2002) which summarized the etiological factors and consequences of depression in elderly with chronic physical illnesses, a randomized clinical trial of a special form of Qigong (The Eight Section Brocades) was conducted to assess if it improved the biopsychosocial health of participants. DESIGN: 50 geriatric patients in sub-acute stage of chronic physical illnesses were recruited and randomly assigned into the intervention and control group. The intervention group was given a 12-week period of Qigong practice while the control group was given traditional remedial rehabilitation activities. RESULTS: The intervention group participants expressed improvement in physical health, ADL, psychological health, social relationship, and health in general as reflected by scores of the Perceived Benefit Questionnaire and informal feedback. CONCLUSION: Although results are not significant in the generalization measures, it may be due to small effect size, small sample size, and short intervention period. Although not all of the hypotheses are supported, this report shows that Qigong (the Eight Section Brocades) is promising as an alternative intervention for elderly with chronic physical illness to improve their biopsychosocial health. More systematic evaluation with larger sample size and longer period of intervention is now underway in Hong Kong. Results will be reported once available.