Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study.

BACKGROUND: Limited data exist so far on cardiovascular disease biomarkers in patients maintained on a protein-restricted diet for inborn errors of protein metabolism. The present study aimed to analyse plasma cholesterol, lipoproteins, triglycerides and total homocysteine in patients with various inborn errors of protein metabolism in comparison with healthy controls. METHODS: A cross-sectional study of cardiovascular disease biomarkers was conducted in a cohort of patients with inborn errors of protein metabolism: nine phenylketonuria, nine urea cycle defect, six branched chain organic acidaemia and two tyrosinaemia type I patients compared to 30 healthy controls. All patients were on a strict natural protein diet for a mean (SD) period of 5.37 (2.30) years (range 2-9 years). Dietary assessment, plasma cholesterol, triglycerides, lipoproteins and total homocysteine levels were obtained. RESULTS: There were no significant differences in blood lipid studies and total homocysteine levels between patients and controls. CONCLUSIONS: The results obtained in this pilot study suggest that cardiovascular disease biomarkers are not increased in patients with inborn errors of protein metabolism. This may be explained by the possible protective effect of a mono- and polyunsaturated fat rich Mediterranean diet. Additional studies with a larger number of patients are needed to confirm this finding.

[Screening for depression in an elderly population living at home. Interest of the Mini-Geriatric Depression Scale]. / Dépistage de la dépression chez une population âgée vivant à domicile. Intérêt de la « Mini-Geriatric Depression Scale ¼

BACKGROUND: Depression is the most usual mental disorder in the elderly, but underdiagnosed and undertreated. Its prevalence is variable. Symptoms of depression present in the elderly can be masked and difficult to recognize. The purpose of this study was to examine prevalence and risk factors for depression in elderly living in their home. METHODS: A cross-sectional study of randomly selected homes in randomly selected geographical islets was carried out Monastir City (Tunisia). Questionnaire-based interviews were conducted among the elderly aged more than 65 years living in their home. Depression symptoms were assessed using a Mini-Geriatric Depression Scale. The relationship between the risk of depression and sociodemographic and health-related variables was studied using logistic regression. RESULTS: Out of 598 (female 66 %, mean (SD) age 72.3 (7.4) years) elderly persons interviewed, 136 (22.7 %) were screened to have a Mini-Geriatric Depression Scale more than or equal to 1. Multiple logistic regression analysis revealed that the following were significant (P<0.01) independent predictors of risk of depression: female sex (OR=2.36 [95 % CI=1.43-3.94]), having a low level of education (OR=4.02 [95 % CI=1.38-11.65]), disability (OR=3.50 [95 % CI=1.94-6.46]), a history of stroke (OR=2.90 [95 % CI=1.20-7.72]) and the use of hypnotic medications (OR=2.47 [95 % CI=1.38-4.42]). CONCLUSION: This study suggests that the risk of depression is a common psychiatric disorder in elderly living in their home, and underlines the usefulness of the Mini-Geriatric Depression Scale to detect the risk of depression in the elderly. This clinical approach should be encouraged in all medical practices to improve the prognosis of depression in the elderly.

[Late revelation of homocysteinuria: clinical, biological and progressive aspects]. / Homocystéinurie à révélation tardive : aspect clinique, biologique et évolutif.

UNLABELLED: Homocysteinuria is a metabolic disorder with defect in genes encoding for methionine metabolism enzymes. The clinical features consist in: ophthalmic, neurological, orthopedic and vascular manifestations. It is generally diagnosed in childhood. Vascular involvements characterize adult's forms. We report one case. OBSERVATION: A 26-year-old man, who has lentis ectopia and a recent epilepsy, was hospitalized for deep vein thrombosis. Regarding the marfanoid phenotype and the high level homocysteinemia (231 micromol/L), homocysteinuria was suspected. Amino acid chromatography and reduced CBS activity were used to confirm the diagnosis. Vitamin enriched diet with vitamin B6 and folates has reduced slightly the homocysteine level. CONCLUSION: Homocysteinuria must be diagnosed early since a simple vitamin supply could ameliorate prognosis and decrease complications.