ABSTRACT
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.
Subject(s)
Biomarkers/blood , Cardiovascular Diseases/blood , Metabolism, Inborn Errors/blood , Adolescent , Child , Child, Preschool , Cholesterol/blood , Cross-Sectional Studies , Dietary Proteins/administration & dosage , Female , Homocysteine/blood , Humans , Infant , Lipoproteins/blood , Male , Metabolism, Inborn Errors/complications , Metabolism, Inborn Errors/diet therapy , Nutrition Assessment , Pilot Projects , Risk Factors , Triglycerides/bloodABSTRACT
Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and responded better to lower doses of biotin, compared to the cases reported previously. Since our case showed differences with those in the literature, it might represent a new entity or a milder form of the same entity.
Subject(s)
Basal Ganglia Diseases/drug therapy , Biotin/therapeutic use , Developmental Disabilities/drug therapy , Basal Ganglia Diseases/diagnosis , Child, Preschool , Developmental Disabilities/diagnosis , Diagnosis, Differential , Dominance, Cerebral/physiology , Dose-Response Relationship, Drug , Electroencephalography , Female , Globus Pallidus/drug effects , Globus Pallidus/pathology , Humans , Magnetic Resonance Imaging , Neurologic ExaminationABSTRACT
The serrations on some parallel and vented prefabricated posts are continuous spirals. Occasionally removal is indicated. If attempts to loosen the post by mechanical vibration fail, the embedded portion may be removed by turning. Careful examination of the radiograph and the exposed portion of the post is needed to determine the proper direction of torque.
