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Biomedical subjects

M Odievre

Publications and source records attributed to M Odievre.

At least 19 recordsLinked to original sources
PubMed2003

[Telephone activity in outpatient pediatric practice].

OBJECTIVES: To assess the amount of telephone activity in outpatient pediatric practice. METHODS: Seventy-nine pediatricians belonging to a continuing medical education group (Arepege) prospectively recorded data about all the telephone calls they took personally for 3 days, from 4 to 6 December 2000. They noted the number of calls each day and their duration, the caller, the reason for and the response to each call. RESULTS: In 3 days, the 79 pediatricians received 4413 calls, for a mean of 19 calls daily for each practitioner. The calls were brief, 86% of them lasting less than 2 min; each pediatrician spent an average of 26 min a day on the telephone; most calls (82%) came from children's mothers. The reasons for the calls were: request for appointment (1035 calls, 23.5%), request for advice not associated with an acute disease (1416 calls, 32%), the onset of acute symptoms (1961 calls, 44.5%). An appointment was made in 26% of the cases for which the reason for the call was illness. CONCLUSION: Pediatric private practice involves substantial telephone activity, which generates no healthcare costs, but does present risks that might be attenuated by the use of appropriate algorithms for conducting these telephone interviews.

Adult↗
PubMed1997

Moyamoya disease in a child with glycogen storage disease type Ia.

A three-year-old child affected by glycogen storage disease (GSD) type Ia presented with acute hemiplegia secondary to Moyamoya disease. So far, the association of moyamoya with GSD Ia had only been reported twice. The rarity of both conditions makes their association unlikely to be a chance event and an etiological relationship between them must be considered.

Child, Preschool↗
PubMed1992

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels. The disease results from deficiency in hepatic tyrosine aminotransferase (TAT; L-tyrosine:2-oxoglutarate aminotransferase, EC 2.6.1.5), a 454-amino acid protein encoded by a gene with 12 exons. To identify the causative mutations in five TAT alleles cloned from three RHS patients, chimeric genes constructed from normal and mutant TAT alleles were tested in directing TAT activity in a transient expression assay. DNA sequence analysis of the regions identified as nonfunctional revealed six different point mutations. Three RHS alleles have nonsense mutations at codons 57, 223, and 417, respectively. One "complex" RHS allele carries a GT----GG splice donor mutation in intron 8 together with a Gly----Val substitution at amino acid 362. A new splice acceptor site in intron 2 of the fifth RHS allele leads to a shift in reading frame.

Adolescent↗
PubMed1992

Bilirubin uridine diphosphate glucuronosyltransferase hepatic activity in jaundice associated with congenital hypothyroidism.

Hepatic bilirubin uridine diphosphate glucuronosyltransferase activity was assayed in an infant with prolonged jaundice and congenital hypothyroidism before thyroid therapy. This activity was nil, suggesting a possible delayed maturation of the enzyme. Although further studies will be necessary to confirm this hypothesis, prolonged jaundice associated with congenital hypothyroidism may be due to a delayed maturation of the hepatic glucuronidation of bilirubin.

Bilirubin↗
PubMed1991

Clinical presentation of metabolic liver disease.

Some clinical clues should alert paediatricians to the possibility of metabolic liver diseases. They can be classified into three categories: (i) Manifestations due to hepatocellular necrosis, acute or subacute, which can reveal galactosaemia, hereditary fructose intolerance, tyrosinaemia type I, Wilson disease and alpha 1-antitrypsin deficiency. Symptoms and signs suggestive of Reye syndrome should lead to a study of fatty acid oxidation and urea cycle enzymes. All these manifestations may necessitate a rapid diagnosis and treatment when liver dysfunction is severe. (ii) Cholestatic jaundice can reveal alpha 1-antitrypsin deficiency, Byler's disease, cystic fibrosis, Niemann-Pick disease and some disorders of peroxisome biogenesis. (iii) Hepatomegaly can reveal disorders with liver damage but also storage diseases such as glycogen storage diseases, cholesteryl ester storage disease and, when associated with splenomegaly, lysosomal storage diseases. Appropriate investigations for recognizing all these entities are proposed.

Child↗
PubMed1991

Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients.

Cardiac examinations were performed on 18 patients with glycogen-storage disease (GSD) type III. Clinical examination was always normal and the electrocardiograms revealed nonspecific data. Similarly, serum muscular enzyme activities were not useful in indicating the presence of cardiomyopathy. Echocardiographic evidence of myocardiopathy was found in five of the 16 children studied (mean age, 9.5 years). Echocardiographic parameters remained stable during the follow-up period (at least 3 years). The other 11 children had no echocardiographic evidence of cardiomyopathy. No relationship was found between peripheral myopathy and cardiomyopathy. All patients with GSD type III should be regularly investigated by echocardiography in respect of their cardiac muscle status.

Adolescent↗
PubMed1991

Fatal liver failure in two children with Niemann-Pick disease type B.

We report on two young patients with Niemann-Pick disease type B presenting with severe hepatic disease. Both children developed cirrhosis and died of intrahepatic block and mechanical hemolysis. Autopsy findings revealed complete obstruction of the sinusoids by lipid-laden Kupffer's cells. These two cases illustrate a new hepatic lesion of Niemann-Pick disease.

Child, Preschool↗
PubMed1991

Familial cutaneous photosensitivity and colitis with lethal outcome.

Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect could be detected.

Colitis↗
PubMed1990

Gunn rats: a reproducible experimental model to compare the different methods of measurements of bilirubin serum concentration and to evaluate the risk of bilirubin encephalopathy.

Three groups of Gunn rats were studied: group 1 was perfused with bilirubin solution alone, group 2 was perfused with bilirubin and albumin solutions simultaneously, group 3 was perfused with bilirubin solution for 30 min then bilirubin and albumin solutions for the following 10 min. Our results indicate that (1) Gunn rats are a reliable experimental model to study the risk of bilirubin encephalopathy, (2) unbound bilirubin can enter the brain when albumin binding capacity is reduced, (3) and bilirubin binding capacity of serum for unbound unconjugated serum bilirubin is a better criterion than total serum bilirubin and erythrocyte bilirubin to evaluate the risk of kernicterus. This model could also be used to study variations of permeability of the blood-brain-barrier and influences of drugs on bilirubin metabolism.

Animals↗
PubMed1990

Molecular analysis of aldolase B genes in hereditary fructose intolerance.

The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149----pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C----A; ala 174----asp) was found in subjects from Italy, Switzerland, and Yugoslavia (overall frequency 16%) but not in those from the United Kingdom, France, or the United States. L288 delta C carried a single base-pair deletion causing frameshift at codon 288 and was restricted to Sicilian subjects. By testing for these mutations in amplified DNA with a limited panel of allele-specific oligonucleotides, more than 95% of HFI patients will be susceptible to genetic diagnosis.

Alleles↗
PubMed1990

Unusual cerebral manifestations in hereditary fructose intolerance.

Five children with hereditary fructose intolerance developed symptoms of neurological impairment. In three of them, neurological involvement was related to the acute hepatic toxicity of fructose (hypoglycemia, abnormal coagulation, cardiovascular collapse); in the other two, such a relationship could not be demonstrated. Neurological impairment is not classic in hereditary fructose intolerance, but its occurrence in the acute phase of the disease is possible and does not constitute an argument against the diagnosis.

Brain Diseases, Metabolic↗
PubMed1990

The long-term outcome of patients with glycogen storage diseases.

In this retrospective study from five centres, 139 patients over 10 years of age with glycogen storage disease types I, III, VI and IX are described. Almost half of the patients with glycogen storage disease type Ia had retarded growth and most had hyperlipidaemia. One-third of the patients had adenomas, although none of these showed malignant transformations. With increasing age the growth, liver size and hyperlipidaemia of patients with glycogen storage disease type III improve. However, there was a high incidence of myopathy and cardiomyopathy. Patients with glycogen storage disease types VI and IX had a normal growth pattern after childhood. Hepatomegaly and hypercholesterolaemia, however, were still present in half of the patients.

Child↗
PubMed1990

Familial hypermethioninemia partially responsive to dietary restriction.

Hypermethioninemia and absolute methionine intolerance were observed in three siblings. These patients had several peculiar clinical features comprising failure to thrive, mental and motor retardation, facial dysmorphy with abnormal hair and teeth, and myocardiopathy. Hepatic S-adenosylhomocysteine hydrolase activity was decreased by 80% in the three children. These clinical and biochemical features differ from those of hypermethioninemias previously described, and thus represent a new form of inherited disorder of methionine metabolism. Whether S-adenosylhomocysteine hydrolase deficiency is primary or secondary to an unknown metabolic defect remains to be determined.

Adenosylhomocysteinase↗
PubMed1990

Esophageal reflux in symptomatic and asymptomatic infants: postprandial and circadian variations.

Twenty-two full-term infants, nine asymptomatic and 13 symptomatic for chronic digestive problems, had long-term (mean = 21 h) esophageal pH monitoring. All children were observed in strictly standardized conditions including meals and body position. Symptomatic infants presented significantly more esophageal refluxes, spent a greater percentage of time with a pH below 4, had a longer reflux duration (longer clearing time) and presented more refluxes lasting more than 5 min. We performed a determination of the circadian variations of parameters associated with esophageal reflux. Asymptomatic and symptomatic infants presented significant circadian variations of the percentage of time below pH 4 and of the longest duration of reflux. However, symptomatic infants had significantly higher mean values and increased amplitudes of circadian rhythms. Moderate phase lag existed for certain variables between symptomatic and asymptomatic infants. These findings can be helpful when interpreting the results of long-term esophageal pH monitoring.

Analysis of Variance↗