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Biomedical subjects

F Rocchiccioli

Publications and source records attributed to F Rocchiccioli.

At least 37 records · Page 2Linked to original sources
PubMed1992

Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability.

Beta-mannosidosis is a recently described inherited disorder with predominantly neurological signs and symptoms as the major manifestations of the disorder. The heterogeneous manifestations of the disease have been presented in seven previous patients. We describe a further case of European descent with an infantile onset of the disease, with the features of speech impairment as the first symptom. Beta-mannosidase activity was completely deficient in the patient and a heterozygote level was found in the parents. In addition, mannosyl-N-acetylglucosamine was identified in the patient's urine in keeping with the diagnosis of beta-mannosidosis.

Affective Symptoms↗
PubMed1991

Protein-metabolism kinetics and energy-substrate utilization in infants fed parenteral solutions with different glucose-fat ratios.

The relative effect of glucose and lipids on whole-body protein-metabolism kinetics was assessed in seven infants undergoing parenteral feeding. Protein intake was kept constant and nonprotein energy was either provided as glucose alone or as an isoenergetic glucose-lipid mixture according to a randomized crossover trial. Protein metabolism and energy-substrate utilization were assessed by a primed, constant L-[13C]leucine infusion, combined with indirect calorimetry. There was a significant difference in the pattern of energy-substrate utilization according to regime. Protein turnover (11.3 +/- 0.7 vs 9.8 +/- 0.4 g.kg-1.d-1; P less than 0.05), protein breakdown (8.4 +/- 0.6 vs 7.1 +/- 0.4 g.kg-1.d-1; P less than 0.05), and amino acid oxidation rates (2.7 +/- 0.4 vs 1.4 +/- 0.5 g.kg-1.d-1; P less than 0.05) were higher for the glucose than the glucose-lipid treatment, whereas protein-synthesis rates did not significantly differ. These results suggest that the nature of energy substrates delivered to parenterally fed infants may affect protein metabolism.

Calorimetry, Indirect↗
PubMed1990

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.

A child presented in early childhood with episodes of coma and hypoglycemia and a rapidly evolutive myopathy and cardiomyopathy leading to death at 9 mo of age. Ketosis was decreased (blood beta-hydroxybutyrate: 0.07 mmol/L) despite normal plasma levels of fatty acids (0.81 mmol/L). The patient's urine contained excessive amounts of the C6 to C10 dicarboxylic acids present in almost all defects of fatty acid mitochondrial oxidation. More specifically, gas chromatography-mass spectrometry identified an accumulation of medium- and long-chain (C8 to C14) 3-hydroxy-dicarboxylic acids, suggesting a defect of the mitochondrial enzyme that normally dehydrogenates these 3-hydroxyacyl-CoA esters. Biochemical studies in the patient's cultured fibroblasts confirmed the impairment of medium- and long-chain fatty acid oxidation, and allowed the recognition of the deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase. The activities of long-, medium-, and short-chain acyl-CoA dehydrogenases and 3-ketoacyl-CoA thiolase were normal. These results describe a disorder of fatty acid metabolism that affects the liver, skeletal muscles, and myocardium. It is important to point out that long-chain 3-hydroxyacyl-CoA deficiency shares many clinical similarities with systemic carnitine deficiency, as well as with carnitine-palmityl-CoA transferase and long-chain acyl-CoA dehydrogenase deficiencies. The differential diagnosis of this disease relies on the demonstration of long-chain urinary dicarboxylic acids with a hydroxyl group in 3-position and the study of the enzyme activity in cultured fibroblasts.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed1989

Oxidative metabolism of linoleic acid by human leukocytes.

Upon incubation with human leukocytes, [1-14C] linoleic acid is almost exclusively transformed into 13-hydroxy-9Z, 11E-octadecadienoic acid (13-HODE) if the linoleic acid concentration is lower than 50 microM. Identification of 13-HODE was done by GLC-MS at the level of its methyl ester, trimethylsilyl ether and by comparison with authentic 13-HODE in two different HPLC systems. Analysis of the products by chiral phase HPLC shows that 13(S)-hydroxy-9Z, 11E-octadecadienoic acid is by far the major metabolite formed by human leukocytes. Comparison of reactions performed with intact or lyzed cells suggests that the formation of 13(S)-HODE by human leukocytes occurs in two steps, a dioxygenation catalyzed by a 15-lipoxygenase and a reduction of intermediate 13-HPODE by a glutathione-dependent peroxidase.

Chromatography, High Pressure Liquid↗
PubMed1989

Capillary gas-liquid chromatographic/mass spectrometric measurement of plasma acetate content and (2-13C) acetate enrichment.

In studies where (2-13C)acetate is employed as isotopic tracer in vivo, we have reported a selected ion monitoring gas-liquid chromatographic/mass spectrometric method which allows plasma tracer enrichment as well as plasma acetate content to be determined in the same 200-500 microliters sample through the use of methacrylic acid as the assay internal standard. For standard solutions in the range equivalent to plasma acetic acid concentrations of 10-200 microM, assay precision was +/- 4.3%. For plasma samples in the physiological range (approximately 20-300 microM acetate) assay precision averaged better than +/- 5%. The use of the method is illustrated by measuring acetate turnover in a young adult.

Acetates↗
PubMed1989

Microdetermination of glucose content of plasma and its isotopic enrichment using capillary gas chromatography/ammonia chemical-ionization mass spectrometry.

A new sensitive and precise method for the determination of the isotopic enrichment of [6,6-D2]glucose and concentration of glucose in plasma microsamples (20 microL) has been developed. Glucose was extracted from plasma samples by anion-cation column-exchange with absolute ethanol, derivatized as 1,2:3,5-bis(butylboronate)-6-acetyl-alpha-D-glucofuranose, and analysed by capillary gas chromatography/ammonia chemical-ionization mass spectrometry. This method gives a better reproducibility and precision (variation coefficient below 1%) than methods using isobutane chemical ionization. Stable isotopes are being used increasingly to investigate energy metabolism in vivo. Recent work has involved the development of methodologies, especially mass spectrometry, to perform tracer experiments using the stable isotopes 3H, 13C, or 13N(1-4). Chemical-ionization mass spectrometry is extensively used for the analysis of isotopically labelled amino acids. In neonates and children, "true" glucose production can be measured by the continuous infusion of the stable isotopically labelled tracer 6,6-dideutero-glucose (6,6-D2-glucose), and analytical measurement is performed using gas chromatography/electron-ionization mass spectrometry (GC/EIMS). Herein, we present a new, simple and sensitive method for the determination of the isotopic enrichment of [6,6-D2]glucose and measurement of the concentration of glucose in plasma microsamples (20 microL), based on the use of capillary gas-chromatography/ammonia chemical-ionization mass spectrometry of 1,2:3,5-bis(butylboronate)-6-acetyl-alpha-D-glucofuranose.

Blood Glucose↗
PubMed1989

Medium-chain fatty acids increase glucose production in normal and low birth weight newborns.

To study the pathogenesis of hypoglycemia in low birth weight infants, glucose production was measured in five hypotrophic and four premature newborns with glycemia of 45 +/- 6 and 59 +/- 10 mg/dl, respectively. Hepatic glucose output averaged 5.7 +/- 0.4 and 5.3 +/- 0.5 mg.kg-1.min-1 in these neonates vs. 8.2 +/- 0.5 mg.kg-1.min-1 in five normal at term newborns and was correlated with glycemia (P less than 0.02). Despite normal plasma free fatty acids, the low birth weight infants had low ketone levels of 163 +/- 72 and 126 +/- 65 vs. 263 +/- 60 microM in normals. Oral administration of medium-chain triglycerides to the neonates increased their circulating ketones by two- to threefold and restored near-normal glycemia (51 +/- 9 and 76 +/- 8 mg/dl) and production of glucose (6.7 +/- 0.7 and 6.6 +/- 0.8 mg.kg-1.min-1) in the hypotrophic and premature vs. normals (8.7 +/- 0.7 mg.kg-1.min-1). Individual rates of glucose production correlated with ketone concentrations (P less than 0.02). We conclude that the hypoglycemia characterizing low birth weight neonates is primarily due to impaired glucose production. That exogenous lipids were able to increase glucose production indicates that fatty acid oxidation plays an important glucoregulatory role in the human newborn.

3-Hydroxybutyric Acid↗
PubMed1989

Diffuse storage of vegetal wax hydrocarbons of dietary origin. Pathologic and chemical findings in a case.

A 55-year-old man died suddenly, after presenting with unstable angina and an asymptomatic micronodular pulmonary pattern. Autopsy revealed storage of a crystallized fatty substance in the lymph nodes, liver, spleen, adrenal glands, and lungs. In the latter organ, the deposition formed foreign body granulomas, accounting for the radiographic appearance. Mass spectrometry identified the fatty substance as straight-chain saturated hydrocarbons (n-alkanes) of carbon-29 and carbon-31 atoms, which are naturally present in the cuticular wax of many vegetals. The case history and the elimination as causal agent of products manipulated in the patient's work led to the conclusion that the storage was due to excessive consumption of apples, and to a lesser degree of Brussels sprouts. We present the light-microscopic findings and the principal biochemical results. Pathogenic mechanisms are described. As far as we are aware, this is the only observation of vegetal alkane storage to be described to date.

Foreign Bodies↗
PubMed1988

A new human pathology with visceral accumulation of long-chain n-alkanes; tissue distribution of the stored compounds and pathophysiological hypotheses.

This report deals with a new human disorder characterized by the accumulation of plant long-chain n-alkanes in viscera of a human patient. Lipid analysis of tissues from an adult male after sudden death (affected with diffuse visceral granuloma containing lipophilic crystallized material) showed the presence of abnormal compounds identified as long-chain n-alkanes with 29 (n-nonacosane), 31 (n-hentriacontane) and 33 carbons (n-tritriacontane). Study of n-alkane distribution in patient tissues showed a major accumulation in lumbo-aortic lymph nodes, adrenal glands, lung (the highest levels were found in lung granulomas) and liver; significantly lower amounts were detected in myocardium and kidney, whereas no detectable level was found in brain. On the basis of the structural composition and of the tissue distribution of the accumulated n-alkanes, their dietary (plant) origin and the pathophysiological mechanism of the storage are discussed.

Adrenal Glands↗
PubMed1988

Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.

Prenatal diagnosis of propionic acidemia was achieved by the direct assay of propionyl CoA carboxylase in chorionic villi. The diagnosis was confirmed by determination of methylcitrate in amniotic fluid and measurement of propionyl CoA carboxylase in the liver from the abortion. Discrepancy between [14C]-propionate incorporation into protein of chorionic villi or cultured chorionic cells and propionyl CoA carboxylase activity is reported.

Amino Acid Metabolism, Inborn Errors↗
PubMed1988

Peripheral neuropathy associated with erythrophagocytic lymphohistiocytosis.

A 12 year old patient who developed clinical, biochemical and histological features of erythrophagocytic lymphohistiocytosis is described. In contrast to previously reported cases, the prominent neurological feature was a subacute sensorimotor polyneuropathy. Sural nerve biopsy showed a marked reduction of myelinated fibres and severe axonal lesions, absence of histiocyte infiltration and deposits of IgM along the epineurium. In addition to the hypertriglyceridaemia previously described in this condition, an elevation of plasma very long-chain fatty acids and phytanic acid was found which suggests a transient impairment of peroxisomal functions.

Biopsy↗
PubMed1987

Abnormal n-nonacosane storage in humans: detection by gas chromatography/mass spectrometry of tissue extracts.

We report a case of n-nonacosane storage disease, which went undiagnosed until the death of a 55-year-old farmer. Clinical, histological, and biochemical features are discussed. n-Nonacosane storage was identified by gas chromatographic-mass spectrometric analysis of different tissue extracts, n-nonacosane concentration reaching 1.2 mg g-1 of lung tissue and 0.32 mg g-1 of liver tissue. It was possible to rule out a work-induced intoxication, and n-nonacosane storage appeared to be accounted for by a lifelong, heavy consumption of unpeeled apples and Brussels sprouts.

Alkanes↗
PubMed1987

Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells.

We report a gas chromatographic-mass spectrometric method which allows the very long chain fatty acids content of trophoblastic tissue to be directly measured in samples collected by biopsy between 8 and 11 weeks of gestation. This method has been successfully applied to the detection of fetal Zellweger syndrome in two pregnant women who had previously delivered affected infants. In one of them, increased concentrations of C26:0 (0.254 versus 0.108 +/- 0.035 microgram/mg proteins) and C24:0 (1.32 versus 0.815 +/- 0.325 microgram/mg proteins) in trophoblast indicated that the fetus had Zellweger syndrome, a diagnosis confirmed by pathological findings after abortion. In the second case, the pregnancy was allowed to proceed, on the basis of normal concentrations of very long chain fatty acids in trophoblastic tissue, and its outcome was actually a healthy newborn.

Chorionic Villi↗
PubMed1986

Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and Zellweger syndrome.

The urines of children with neonatal adrenoleukodystrophy and Zellweger syndrome contained an excess of unusual even- and odd-numbered dicarboxylic acids with a chain length of from 5 to 15 carbon atoms, as well as 2-hydroxy-compounds, including 2-hydroxy-isocaproate, 2-hydroxy-glutarate and 2-hydroxy-sebacate. The latter product, not previously found in metabolic diseases, appears as an additional useful marker of these peroxisomal disorders.

Adrenal Gland Diseases↗