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Biomedical subjects

E Zammarchi

Publications and source records attributed to E Zammarchi.

At least 19 recordsLinked to original sources

Hepatitis C virus antibodies in a long-term follow-up of beta-thalassaemic children with acute and chronic non-A non-B hepatitis.

The presence of antibodies toward hepatitis C virus (HCV) was examined in 78 polytransfused beta-thalassaemic children. The anti-HCV status was correlated with acute and chronic non-A non-B (NANB) hepatitis that developed during a follow up of about 13 years. Anti-HCV was present in 83.3% of children with acute NANB hepatitis and in 82.9% of those with chronic NANB hepatitis. The percentage of chronic evolution was 56.7% for acute anti-HCV positive NANB hepatitis and 50.0% for anti-HCV negative NANB hepatitis. The long-term persistence of anti-HCV antibodies did not correlate with chronic evolution of liver infection in thalassaemic patients. Histological features of chronic hepatitis showed little or no difference between HCV associated or non-associated liver disease. The multifactorial liver injury in beta-thalassaemic children explains the high prevalence of cirrhosis (about 30%) observed in these patients with NANB hepatitis. On the other hand, independent of liver disease, some patients never seroconverted during the follow up in spite of the high number of transfusions suggesting the existence of "non-responders".

Acute Disease

Clinical utility of non invasive methods in the evaluation of scleroderma lung in pediatric age.

Lung involvement in children affected with Systemic Sclerosis (SSc) has been studied. We used ventilation and perfusion scans and compared the results to those obtained with traditional pulmonary function tests. The vascular pulmonary area was examined with a gama-camera after infusion of 99mTc microspheres, while the alveolo-capillary membrane and the airways were investigated after administration of a radioaerosol, (99mTc DTPA). Pulmonary function tests revealed either alteration of the airways or a considerable involvement of the alveolo-capillary membrane in two patients. On the other hand ventilation scan showed airways alterations and a severe decrease of the alveolocapillary permeability in all patients. Our study indicates that ventilation scans may be useful in the diagnosis of early modifications of the lung function also in paediatric age and may complement the data obtained from traditional function tests.

Adolescent

cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling.

We have studied the uptake of both propionate and leucine in a chorionic villus sample from a fetus at risk for cblC disease. The ratio of propionate to leucine incorporation (x 10(-3] was 3.85 +/- 0.27 (n = 8) in the at risk sample, and 2.8 +/- 0.14, and 3.1 +/- 0.15 (n = 4) in two control samples. The finding of an unaffected fetus was confirmed by the absence of methylmalonic acid in amniotic fluid or maternal urine in the second trimester, and after birth by study of cultured fibroblasts from the baby. Because of the reported variability in propionate incorporation in chorionic villus biopsies, however, we recommend that chorionic villus sampling be confirmed by amniocentesis.

Adult

Free tryptophan decrease in jaundiced newborn infants during phototherapy.

Tryptophan and nonesterified fatty acids (NEFA) are bound to serum albumin. NEFA displace tryptophan from their binding sites. Since NEFA decrease during phototherapy, we examined reciprocal variations of NEFA, total and free tryptophan in jaundiced newborn infants during phototherapy. After 24 h of phototherapy, we noticed a significant decrease of both NEFA and free tryptophan (p less than 0.001). Free tryptophan variations might affect the synthesis of cerebral neutrotransmitter 5-hydroxytryptamine, which depends on the passing of free tryptophan through the blood-brain barrier.

Bilirubin

DHPR activity decrease in dried blood spots stored at 4 degrees C.

Dihydropteridine reductase (DHPR) activity has been measured in dried blood spots by the Arai method in 286 subjects divided into 4 groups: 45 newborns aged between 4 and 7 days; 40 subjects with hyperphenylalainaemia; 199 apparently normal subjects, and 2 patients with DHPR deficiency. Furthermore, a study of the persistence of enzymatic activity on the spots stored at 4 degrees C revealed that after 1 year it decreased to one third of the original value, corresponding to the mean value of controls minus 2 SD.

Amino Acid Metabolism, Inborn Errors