The present study reports the simultaneous analysis of 26 physiological amino acids in plasma along with total cysteine and homocysteine by high-performance liquid chromatography (HPLC) employing 6-aminoquinolyl-N-hydroxysuccinimidyl carbamate (AQC) as precolumn derivatizing reagent. Separations were carried out using Lichrospher 100 RP-18e (5 μm) 250 × 4.0 mm column connected to 100 CN 4.0 × 4.0 mm guard column on a quaternary HPLC system and run time was 53 min. Linearity of the peak areas for different concentrations ranging from 2.5 to 100 pmol/μL of individual amino acids was determined. A good linearity (R (2) > 0.998) was achieved in the standard mixture for each amino acid. Recovery of amino acids incorporated at the time of derivatization ranged from 95 to 106 %. Using this method we have established the normative data of amino acids in plasma, the profile being comparable to the range reported in literature and identified cases of classical homocystinuria, cobalamin defect/deficiency, non-ketotic hyperglycinemia, hyperprolinemia, ketotic hyperglycinemia, urea cycle defect and maple syrup urine disease.
Osteogenesis imperfecta (OI) is a common genetic disorder that manifests with intrauterine or pre- or postnatal fractures, blue sclera, and deafness. Various treatments for the management of OI have been tried, of which bisphosphonates (BPs) seem to have the maximum benefit in reducing fracture rate and improving bone density. Zolendronic acid is a newer BP tried for several bone diseases, mainly in adults. The objective of our analysis was to study the response to zolendronic acid in children with type III OI. The case records of subjects with type III OI receiving zolendronic acid in the past 3 years between February 2006 and March 2009 were analyzed. Relevant details were recorded on a predesigned chart. Subjective improvement, reduction in number of fractures, and the DEXA scan Z-score were used to judge improvement. Five OI type III cases were followed up in the Genetic clinic. Presentation was from neonatal period to 7 years of age; M:F ratio was 3:2. Average duration of therapy given was 20.4 months. Improvement was noted in all patients, in the form of reduction in frequency of fractures (P = 0.002) and increase in bone density on DEXA scan (P = 0.01). Side effects noted were flu-like symptoms and myalgia. No clinical problems due to hypocalcemia were noted in any of the patients. Thus, zolendronic acid is seen as a safe and effective BP in type III OI children. The exact dose for optimal benefit is yet to be determined. The long-term effects of newer BPs need further long-term trials.
Alterations of several cardiometabolic risk factors, in particular, leptin concentrations and leptin resistance are present in children with DS. The presence of hyperleptinemia without hyperinsulinemia suggests a probable inherent genetic basis for increased leptin resistance in patients with DS. There is a need for larger studies to further understand increased leptin resistance in DS that may contribute to increased CVD related morbidity and mortality in these patients.
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