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Biomedical subjects

I Saponara

Publications and source records attributed to I Saponara.

8 recordsLinked to original sources
PubMed2000

Elevated plasma homocysteine concentrations after pediatric heart transplantations.

Graft coronary artery vasculopathy is the main cause of late morbidity and mortality in cardiac allograft recipients. A high plasma homocysteine (hcy) concentration is now generally accepted as a risk factor for coronary arteriosclerosis, but little information exists for the pediatric age group. We therefore explored the potential role of hcy and antioxidants in 31 pediatric allograft recipients. We found hcy concentrations to be significantly higher in recipients than in control. Hcy continued to rise within the first 2 postoperative years. Vitamin A and E concentrations were significantly lower in transplant patients. Hyperhomocysteinemia was significantly more common in patients with complications than in those without. Our findings suggest that pediatric allograft recipients experience oxidant stress, as highlighted by the high plasma levels of Hcy and the low concentrations of vitamins A and E. Nutritional supplementation may be indicated to lower plasma hcy and to reduce oxidant stress.

Adolescent↗
PubMed1996

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.

Mitochondrial trifunctional protein deficiency, a recently identified disorder of fatty-acid oxidation, may show characteristic features such as peripheral neuropathy, pigmentary retinopathy, and acute fatty liver degeneration in pregnant women with an affected fetus. We describe a patient with trifunctional protein deficiency whose clinical picture consisted of severe calcium and phosphate abnormalities caused by hypoparathyroidism.

Female↗
PubMed1996

Cranial ultrasonography in maple syrup urine disease.

We performed serial cranial ultrasonography in four newborns affected by maple syrup urine disease. Symmetric increase of echogenicity of periventricular white matter, basal ganglia (mainly pallidi), and thalami was detected in the acute stage. The degree of ultrasonography abnormalities paralleled the clinical course of the disease.

Brain Diseases, Metabolic↗
PubMed1993

Carnitine palmitoyl transferase deficiency in malignant hyperthermia.

The activity of carnitine palmitoyl transferase, an enzyme that catalyzes the transport of long-chain acylcarnitines into mitochondria, was quantitated in EB-virus-transformed lymphoblasts from 7 patients with susceptibility for malignant hyperthermia. Immunoreactive enzyme protein was also measured using an enzyme-linked immunosorbent assay. Cell lines derived from patients with carnitine palmitoyl transferase deficiency of muscle and from normal individuals were used as positive and negative controls, respectively. One patient with malignant hyperthermia had a deficiency in the enzyme activity which was comparable with that of the known carnitine palmitoyl transferase deficient patients. This individual's lymphoblasts were also deficient in immunoreactive enzyme protein. All of the remaining patients with malignant hyperthermia were deficient only when the backward assay for carnitine palmitoyl transferase was used for quantitation. It is likely that a subset of individuals with a malignant hyperthermia phenotype have a primary deficiency of carnitine palmitoyl transferase and that others have a milder enzyme deficiency secondary to the primary defect in malignant hyperthermia.

Carnitine O-Palmitoyltransferase↗
PubMed1992

Immunoquantitation of carnitine palmitoyl transferase in skeletal muscle of 31 patients.

We studied 31 patients suspected of having muscle carnitine palmitoyl transferase 2 (CPT2) deficiency. The catalytic activity of CPT2 was measured in muscle biopsies by the isotope exchange method and CPT2 immunoreactivity was quantitated by an enzyme-linked immunosorbent assay. Nine patients had normal enzyme activity and immunoreactivity. Eight patients had significant deficiencies in catalytic activity (> 3 S.D. below reference mean) of which six were also deficient in immunoreactivity. An additional nine patients were significantly deficient in immunoreactivity with normal catalytic activity and five patients had partial deficiencies in both. At least two categories of alterations in CPT may exist which lead to a deficiency based on the data presented: (1) a regulatory defect in CPT which only alters the enzyme active site; and (2) a structural defect due to altered synthesis, increased degradation, or changes in the immunoreactive site. It may prove to be of diagnostic importance to combine the analysis of enzyme activity and immunoreactivity in patients suspected of having a CPT deficiency and to further investigate the condition of partial CPT deficiency.

Adolescent↗
PubMedDate not supplied

Further studies on acid phosphatase in obese subjects.

Low activity genetic variants of acid phosphatase (ACP1) are positively associated with extreme body mass deviations in obese subjects. The same pattern has been found in non-diabetic children, in diabetic pregnant women, and in non-diabetic adult subjects. Low activity variants of ACP1 also show a positive association with family history of obesity, supporting the hypothesis of an enhancing action of these variants on expressivity of obesity.

Acid Phosphatase↗
PubMedDate not supplied

[The health and social problems of immigrant children].

Assessing both health and human problems of immigrant children, the authors wish them to be included in the social life with no discriminatory attitude, with the rights belonging to any man, in accordance with cultural and religious habits, customs and tradition.

Adolescent↗