Heterozygous liver transplantation for maple syrup urine disease: First European reported case.

MSUD is an autosomal recessive metabolic disorder that results from a defect in the BCKDH enzyme. This enzyme is essential for the second step in the metabolism of the branched-chain amino acids, leucine, isoleucine, and valine. Patients with MSUD are subject to severe, irreversible neurologic injury unless closely managed with a specialized metabolic formula and a diet restricted in leucine throughout their lifetime. During times of illness, patients with MSUD can suffer from severe metabolic derangement, acute cerebral edema, and untimely death. Deceased donor liver transplant restores the ability to metabolize branched-chain amino acids, even on an unrestricted diet, and prevents metabolic derangements during times of illness. We report a successful case of living donor (parental) transplant for a child with MSUD. The donor was the child's father. This approach has been controversial as parents of children with MSUD are obligate heterozygotes for the condition and have diminished levels of BCKDH activity. If effective, living-related donor transplant provides a promising alternative for deceased donor liver transplant, which often requires a prolonged waiting period and may not be feasible in areas with limited medical resources.

Use of erythropoietin and its effects on blood lactate and 2, 3-diphosphoglycerate in premature neonates.

The aim of this study was to investigate the effect of recombinant human erythropoietin (rHu-EPO) on oxygen affinity and adequate oxygen delivery to the tissues of stable premature infants. 36 very-low-birth-weight infants were randomly assigned to either receive rHu-EPO (200 units/kg every other day) or not, and both groups were supplemented with iron, folic acid and vitamin E. Arterial blood gases, oxygen saturation, complete blood counts, fetal haemoglobin, 2,3-diphosphoglycerate (2,3-DPG) and blood lactate were analysed weekly, from the 1st week till discharge. Patients in the two groups were comparable. There was a trend in increasing lactate values towards the 4th to 5th weeks of life, which did not reach statistical significance. There was no correlation between lactate values and the studied variables (pH, BE, oxygen saturation). In 35 transfusions, pre- and 24 h post-transfusion blood lactate status was studied. In 23 of them, a decrease in post-transfusion lactate was noticed, whilst an increased post-transfusion level was shown in 10 cases and no change in 2 cases. The mean pre-transfusion lactate value was significantly higher than the post-transfusion one (24.04 +/- 11.9 mg/dl before and 16.27 +/- 8.5 mg/dl after transfusion; p = 0.0025). In both groups there was a steady rise in 2,3-DPG concentration over the period of study, and the 2,3-DPG values at the end of our study were significantly increased in the rHu-EPO group (rHu-EPO 5.98 +/- 0.9, control 4.84 +/- 0.7; p = 0.04). In conclusion, the use of rHu-EPO did not affect blood lactate levels compared to the control group. Regarding oxygen affinity, it seems that rHu-EPO causes a shift of the oxy-haemoglobin dissociation curve to the right. This is a previously unreported effect of rHu-EPO and its clinical use may, thus, confer to preterm babies an added advantage.

Insulin secretion decline unrelated to jejunal morphology or exocrine pancreatic function in children with celiac disease.

We describe a prospective 10-year study of insulin secretion and immunologic changes in a group of children with celiac disease (CD) on a gluten-free diet. Thirty CD patients aged 4-16 years and 30 matched controls were examined. They underwent i.v. glucose tolerance test during which glucose disappearance rate (K) and first phase insulin response (FPIR) were measured. Typing for HLA A, B, C, and DR antigens was performed and sera were analyzed for cytoplasmic islet cell antibodies (ICA) on several occasions. Pancreatic isoamylase (PIA) was measured to assess exocrine pancreatic function. In 4/21 CD children, FPIR and K rate were decreased. There was a significant correlation between the two parameters (p < 0.01). The incidence of HLA B8 and DR3 was higher in CD (33% and 60%, respectively) than in healthy individuals (p < 0.001). All patients were found to be ICA negative at the time of the study and at follow-up. There was no correlation between parameters of endocrine (FPIR, K) and exocrine (PIA) pancreatic function. One out of four children with reduced FPIR developed overt DM during the study. In conclusion, the decline of first phase insulin secretion documented in CD patients is unrelated to jejunal morphology or exocrine pancreatic function. This decline may be an expression of a prediabetic phase as observed in one of the subjects who finally developed IDDM. HLA B8 and DR3, which are detected in celiac patients, may indicate a possible common pathogenic mechanism between CD and IDDM.

Comparison of cefadroxil and ampicillin in the treatment of urinary tract infections in children.

The therapeutic efficacy of 25 mg/kg of cefadroxil administered once daily was compared with that of 50 mg/kg/day of ampicillin administered in four equal doses in the treatment of acute uncomplicated urinary tract infections (UTIs) in children. Nineteen girls and seven boys (mean age, 5.5 years) received cefadroxil, and 18 girls and eight boys (mean age, 5.9 years) received ampicillin. The clinical and bacteriological characteristics, as well as the demographic characteristics, of both populations were well matched. Patients with structural anomalies or with a history of hypersensitivity to cephalosporins or penicillins or abnormal hepatorenal function were excluded from the trial. Only patients with at least two consecutive positive cultures of a single pathogen, obtained in clean-catch midstream urine samples (greater than or equal to 10(5) colony-forming units per ml urine) and susceptible to the respective antibiotic, were admitted to the study. Urine cultures were repeated during the ten days of treatment and ten days after the completion of treatment. All patients in the cefadroxil group were evaluated as clinically and bacteriologically cured. Three (12%) of the patients in the ampicillin group had positive cultures in the immediate post-treatment period. The differences in the cure rates of the two groups were not statistically significant. No adverse effects of either antibiotic were observed.