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Two kinds of inborn errors of metabolism, dicarboxylic aciduria and hyperoxaluria, have been studied by means of hydroxyl negative ion chemical ionization [NICI(OH-)], linked with collisionally activated decomposition experiments on the [M?H]-species of the pathognomonic organic acids. This method has led to non-controversial qualitative determinations of C4–C10 dicarboxylic acids and oxalic, glyceric and glyoxylic acids. NICI(OH-) linked with collisionally activated decomposition mass analysed ion kinetic energy spectrometry (CAD MIKES) is proposed herein for diagnostic purposes, as a valid mass spectrometric alternative to standard gas chromatographic/mass spectrometric analysis. The procedure is characterized by simplified sample treatment and by fast execution.

We report 2 cases of cystinuria in which, a nephrotic syndrome developed during treatment with alpha-mercaptopropionylglycine. This syndrome resolved after withdrawal of the drug and it did not recur when the alpha-mercaptopropionylglycine was given again in lower doses. The hypothesis is made that the nephrotic syndrome was dose-related. The aipha-mercaptopropionylglycine must be used in doses <50mg./kg. per day with regular monitoring of 24-hour urinary protein in cystinuric children.

we describe a new RP-HPLC assay to measure orotate concentration in urine. The method is rapid, sensitive and precise. It is particularly suitable for the diagnosis of inherited metabolic diseases and deranged orotate metabolism.

Aim: To evaluate whether clamping time could affect peripheral and heart hemodynamics, in a group of healthy term newborns.Subjects and Methods: We evaluated 9 early cord clamping (ECC) (30 seconds) in comparison with 10 late cord clamping neonates (LCC) (4 minutes) at the mean age of 68.7 hrs. The following variables were evaluated: hematocrit (Ht %), hemoglobin (Hb g/dL), total bilirubin (TB mg/dL), heart left diastolic ventricular diameter LDV(D) (cm) by a sonographer (HDI 3000 CV); calf blood flow (mL/100g/min), calf Hb flow (micromoles/100 mL/min), calf O2 delivery (DO2), O2 consumption (VO2) (micromoles/100 mL/min), using near-infrared spectroscopy (NIRS, NIRO 300 oximeter). Perfusion index (PI) were obtained using a Masimo SET radical pulse oximeter with a sensor placed on the foot contralateral. Data are presented as mean (SD). Mann Whitney test was used to compare the two groups values. A p value less than 0.05 was considered significant.Results: Ht 55.5 (4.8) vs 64.5 (5.3) (p 0.004) in ECC and LCC groups respectively, Hb 15.2 (1.2) vs 17.9 (1.4) (p 0.002), TB 8.2 (3.6) vs 7.3 (2.8) (ns), calf Hb flow 2.1 (1.4) vs 1.9 (0.9) (ns), calf BF 0.7 (0.4) vs 0.7 (0.3) (ns), calf DO2 10.1 (1.3) vs 11.2 (1.1) (ns), calf VO2 calculated by arterial occlusion 0.4 (0.1) vs 0.3 (0.1) (ns), LDV(D) 1.5 (0.08) vs 1.7 (0.1) (p 0.01), and foot PI 1.08 (0.3) vs 1.1 (0.3) (ns).Conclusion: Our study shows that LCC group has an increased placental transfusion, that was expressed by higher hematocrit and hemoglobin, in comparison with ECC group; so a bigger left ventricle diameter at the diastole. There was no evidence of changing in both calf Hb flow and blood flow, as well as in oxygen tissue metabolic demand and foot PI. The increased blood volume seems not to increase the jaundice risk.

AIM: To evaluate cerebral blood volume (DCBV), tissue oxygenation index (TOI), troponin I and neuro-physiological variables in term neonates affected at birth by cardiorespiratory depression or asphyxia and their correlation with outcome.DESIGN/METHODS: Case-control study. Inclusion criteria: arterial pH less or equal to 7.25, excessive base deficit (BE) and Apgar at 5 min less or equal to 6. We evaluated grade of encephalopathy (HIE) at birth as well as neurodevelopmental performance at 12 months. The 15 control neonates were with Apgar score more or equal to 9 at 5 min, with near infrared spectroscopy (NIRS) and troponin I at the same age. Optodes were placed on the frontotemporal area in the first 14±7.6h after birth. DCBV was calculated from D[Hb sum]x0.89/Hb (g/dL). We assessed troponin I and blood gases (before 1 hour of life) on admission. Brain ultrasound (US) were performed at 24 hours and somatosensory evoked potentials (EP), at 2 weeks of life. Data are presented as mean±SD.RESULTS: Troponin I increased in the asphyxiated or depressed group in comparison with controls (0.39±0.54 vs 0.09±0.08, p=0.04) (Mann-Whitney test). ANOVA analysis showed a correlation between HIE grade at birth with EEG (p=0.03), EP (p=0.00009), US (p=0.009). A multiple regression model, including EEG, US and EP as independent variables and one year-outcome as dependent one, presents for EP a p=0.02 and Beta 0.57. Another multiple regression model including pH, BE, troponin I as well as DCBV and TOI as independent variables and one year-outcome shows for BE a p =0.008.CONCLUSION: In asphyxiated or depressed term newborn infants EEG, EP and US scan correlated with grade of HIE at birth. EP and BE correlated with one year outcome. DCBV and TOI seem not to indicate early and one-year outcome.