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S Falorni

Publications and source records attributed to S Falorni.

3 recordsLinked to original sources

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

[Osteomyelitis caused by atypical mycobacteria in multiple colonies].

The authors describe a seven months and a half little girl, A.B., affected by multiple localization osteomyelitis caused by an Atypical Mycobacterium, with the culture identifies as M. Avium, belonging to the third group of Runjon classification. The radiographic tests show a primary pulmonary complex and some osteolytic areas of the seventh right rib and of the bones of the lower legs (femur and tibia). From the beginning a multiple antituberculous chemotherapy against non tuberculous mycobacterial disease has initiated: Streptomycin (for two months) associated with Rifampicin, Isoniazid and Pyridoxine. The patient responds very slowly to the treatment and only three years later the whole radiologic regression of the lesions occurs. The interest of the case comes from the extreme rarity of disseminated bone localization during an atypical mycobacterial infection, and also from the early beginning of the clinical and radiologic manifestations.

Bone and Bones