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C Dellamonica

Publications and source records attributed to C Dellamonica.

18 recordsLinked to original sources
PubMed1987

[Reference values of serum transferrin in newborn infants, children and adults].

The authors have studied the evolution of serum transferrin concentration in relation with age (newborn child, infant, adult). The mean concentration of serum transferrin is the lowest for neonates (2.15 g/l). At 10 months, it increases to reach a value of about 3.10 g/l then reduces at 24 (3.0 g/l) and 48 months (2.8 g/l). By the 4 to 18 years subjects, serum transferrin is approaching that of 10 months children (3.15 g/l). At last it doesn't support any modification during all the adult life. The diversity of the obtained results dependent of the used technique and/or of the laboratory, justifies that each one defines his own reference values.

Adolescent↗
PubMed1987

[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].

Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families.

Creatine Kinase↗
PubMed1986

[Tissue and blood ferritins and isoferritins].

Ferritins which can store excess iron are localised principally in tissue. Ferritins have on apoprotein shell which is composed of 24 sub-units, from 2 types of sub-units: "H" (molecular weight about 21 000) and "L" (molecular weight about 19 000) that assemble in different proportions and give multiple forms. Protein pattern depends on tissue nature. Since 1972, radio-immunology assays have shown very low serum ferritin levels. There is a good correlation between these levels and the amount of storage iron in the body. However it was demonstrated that elevation of serum ferritin could also occur without iron metabolism trouble by various mechanisms.

Chemical Phenomena↗
PubMed1984

Study of blood lipids in 30 children with a malignant hematological disease or carcinoma.

Levels of total lipids, cholesterol and triglycerides were followed in 30 children with malignant hematological diseases, or solid tumors; in addition, chylomicrons, VLDL, LDL and HDL were separated by electrophoresis on polyacrylamide gel. Nine of the 13 children with acute lymphoblastic leukaemia presented an increase of triglycerides and VLDL at time of diagnosis; all other parameters (cholesterol, HDL, LDL, chylomicrons) were normal. The lipid profile went back quickly to normal when hematological remission was obtained and remained stable throughout the course of the disease whatever the evolution might be. Five more patients in relapse were studied and did not present abnormalities. Similar results were obtained in 1/2 patients with acute myeloblastic leukaemia and in 3/5 patients with lymphoma. No lipid profile abnormality was observed in four patients with solid tumor and in one patient with histiocytosis X. The values of triglycerides and VLDL in pathological cases will be given. The endogenous nature of this disturbance is discussed as well as its relation with the rate of malignant lymphoid proliferation.

Apolipoproteins↗
PubMed1983

Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood.

Dicarboxylic aciduria was found during hypoglycemic episode in a 14 months old girl. Her brother had died at the age of 4 years during febrile illness. A ketogenic diet induced in this patient a severe hypoglycemia. Urinary organic acid profile exhibited abnormal excretion of the C6-C10 dicarboxylic acids (adipic-suberic-sebacic) and related metabolites (5 hydroxyhexanoic, hexanoylglycine, suberyl glycine). This pattern suggested a defect in fatty acids beta oxidation. Plasma carnitine values was within control limits. Similar clinical findings and urinary organic acids excretion have been described in 6 patients since the initial case of Gregersen. Enzymatic studies on cultivated fibroblasts from our patient showed a defect in medium chain CoA dehydrogenase. The treatment of this disease consists of glucose infusion during attacks and prevention of fasting. This rare disease must be considered in a child with non ketotic hypoglycemia or Reye's syndrome.

Acyl-CoA Dehydrogenases↗
PubMed1983

Hyperammonemia in hypoglycemic preterm neonates.

Plasma glucose, blood urea nitrogen, and ammonia were measured simultaneously in 44 newborns a few hours after birth. When the concentration of plasma glucose was below 30 mg/dl, plasma ammonia concentration was significantly higher (129 +/- 67 mumol/l) than in normoglycemic infants (74 +/- 33 mumol/l; p less than 0.01). Blood urea nitrogen was slightly lower in hypoglycemic infants (3.65 +/- 0.7 mmol/l) than in the control group (4.5 +/- 1 mmol/l) but the difference was not significant. These data show that hyperammonemia can be associated to hypoglycemia in low birth weight infants. Therefore, further investigations are required to determine the link between urea and glucose production rates in hypoglycemic newborns and whether hyperammonemia participates in the deleterious effects of hypoglycemia on the neonatal brain.

Alanine↗
PubMed1983

Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper.

Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.

Adenosine Triphosphate↗
PubMed1981

[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].

The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.

Clinical Enzyme Tests↗
PubMed1980

Duchenne muscular dystrophy: systematic neonatal screening and earlier detection of carriers.

Systematic neonatal screening programme for DMD has been set up since June 1975. Constant and specific SCK increase in DMD newborn can be found on whole dried blood between the 5th and 8th day after birth. The amount of false positives is small : 1,6%. At the first control, DMD diagnosis is very probable and is made certain by EMG and muscle microscopic observations. For a period of 3 years and 6 months, we have achieved 138 579 screening tests, and 12 DMD were found, among 71 091 boys (1/5 929 male births). Genealogical data from 11 families out of the 12 lead to identify 93 women relatives as possible carriers; 23 of them are menstruating women who benefit by recognition and receive genetic information several years before the DMD clinical diagnosis in the first family's proband could have been done. Systematic neonatal screening programme for DMD seems to be a means to reduce the incidence of DMD to the theoretical mutation cases.

Female↗
PubMed1979

[Systematic neonatal screening for Duchenne muscular dystrophy].

More than 15% of cases of Duchenne muscular dystrophy (DMD) may be preventable by the neonatal diagnosis of another affected relative. Systematic neonatal screening seems a more efficient way of getting information for genetic counseling. The principle of the test described is the detection of a specific increase of the activity of Creatine-Kinase (CK) in the blood of newborn children with myopathy. Blood may be spotted on paper and posted to a central laboratory. Furthermore this program can be integrated into the systematic screening of phenylketonurie. The specificity and accuracy of the bioluminescent reaction used for the evaluation of CK suggest that this screening reaction is reliable. A systematic neonatal screening program for DMD such as ours in the Rhône-Alpes area (France) will lead to frequent recourse to prenatal diagnosis now possible through sex fetal determination and which would be possible through in utero blood sampling.

Creatine Kinase↗
PubMed1978

Comparison of the EMIT test with high-performance liquid chromatography for the determination of phenobarbital in serum.

The new enzyme immunoassay technique (EMIT) is compared to high-performance liquid chromatography used for determining phenobarbital in serum. After resuming the methods of both techniques, we compare the results of 116 sera collected from patients receiving treatment for epilepsy. The equation of the correlation curve is: HPLC = 0.98 EMIT + 0.12. The reliability characteristics are comparable. The enzyme immunoassay technique is less specific but more practicable.

Chromatography, High Pressure Liquid↗
PubMedDate not supplied

[Plasma concentrations of amino acids, urea nitrogen and ammonia in 1 to 2 month-old low birth weight premature infant (author's transl)].

The aim of the present study was to measure the plasma concentrations of amino acids under different diets in preterm neonates whose birthweights were less than 1,350 g and gestational ages less than 34 weeks, and to compare these results with the plasma concentrations of amino acids in full term infants who were exclusively breast fed. At the end of the second month, these concentrations in preterm breast fed infants were similar to those in full term infants except for significantly lower levels of lysine. The addition of 46% humanized formula to breast milk did not change the concentrations of amino acids. The blood levels of urea nitrogen and ammonia were not different in preterm and full term infants; they were not altered by the addition of the formula.

Amino Acids↗