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Biomedical subjects

P Labrune

Publications and source records attributed to P Labrune.

At least 73 records · Page 4Linked to original sources
PubMed1994

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities.

Abnormalities, Multiple↗
PubMed1994

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver. Two B-UGTs are coded for by a gene complex (UGT1) that maps to chromosome 2q37 and that also encodes two phenol-UDP-glucuronosyltransferases. Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R). Interestingly, 6/14 mutant alleles carried by unrelated probands of French ancestry bore the A401P mutation, indicating a founder effect; this effect is probably also present in Portugal, Turkey, and Tunisia. Since mutations occurred in exons 2-5 shared by all mRNAs species of the gene, a combined deficiency of B-UGT and P-UGT was observed in the liver of five patients in whom these activities were measured. The present study confirms that CN-I is genetically heterogeneous and suggests that different founder effects are involved in Western Europe, the Middle East, and North Africa.

Crigler-Najjar Syndrome↗
PubMed1994

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

Linkage data for familial incontinentia pigmenti (IP2) and 17 X chromosomal markers are reported. The linkage previously found between IP2 and the F8C locus is confirmed (Z max = 11.85 at theta = 0.028). Linkage is established with distal markers DXS1108 (Z max = 10.06 at theta = 0.00) and DXYS154 (Z = 9.07 at theta = 0.019). Multipoint analysis supports the distal localization of the IP2 gene with respect to the F8C locus.

Animals↗
PubMed1994

Serum concentrations of albumin, C-reactive protein, alpha 2-macroglobulin, prealbumin, fibronectin, fibrinogen, transferrin, and retinol binding protein in 55 patients with hepatic glycogen storage diseases.

Hepatic glycogen storage diseases are hereditary metabolic disorders involving the metabolism of glycogen. This study was designed to investigate the serum protein status in such diseases. Fifty-five patients with glycogen storage disease types I, III, VI, and IX, whose ages ranged from 1 month to 27 years, were included in this work. C-reactive protein, fibrinogen, alpha 2-macroglobulin, albumin, transferrin, fibronectin, retinol binding protein, and prealbumin serum concentrations were measured in each patient. In patients affected with type I glycogen storage disease, serum concentrations of alpha 2-macroglobulin, fibrinogen, C-reactive protein, and transferrin were significantly increased. In patients with types III, VI, and IX glycogen storage diseases, the concentration of alpha 2-macroglobulin was the only one that was significantly increased. Thus, even though this study raises more questions than it answers, it seems likely that the hepatic synthesis of some proteins may be increased in patients affected by hepatic glycogen storage diseases. This may indicate some degree of mild hepatic dysfunction in such metabolic disorders. However, further investigations are required to elucidate the discrepancies observed among the different types of diseases.

Adolescent↗
PubMed1994

Sweet syndrome as the presenting manifestation of chronic granulomatous disease in an infant.

A 2.5-month-old infant had Sweet syndrome. Chronic granulomatous disease was subsequently diagnosed by the nitroblue tetrazolium reduction test. To date, this infant is the youngest reported with Sweet syndrome. Moreover, the association of chronic granulomatous disease with this syndrome has not been previously described. The precise relationship between the conditions remains to be determined. Granulocyte function should be evaluated in any infant with Sweet syndrome.

Diagnosis, Differential↗
PubMed1994

Recombinant human G-CSF (Lenograstim) for infectious complications in glycogen storage disease type Ib. Report of 7 cases.

Seven patients with glycogen storage disease type Ib suffering from severe and/or recurrent bacterial infections were treated with glycosylated recombinant G-CSF (Lenograstim). Mean follow up was 20.8 months (range 9-30 months). In all cases a median dose of 5 micrograms/kg/day resulted in rapid clinical improvement, associated in 6/7 with an increase in absolute polymorphonuclear (PMN) count. In the remaining subject, a striking amelioration of infectious status contrasted with a persistently low PMN count. Liver transplantation in one patient resolved metabolic complications but did not improve PMN count or the infectious status, while neutropenia was corrected by G-CSF. Prevention of recurrent infections was achieved in all cases with intermittent therapy. Short term treatment was well tolerated, thrombocytopenia in two patients (WHO grade 0 and grade 3) recovering after decrease of G-CSF dosage.

Adolescent↗
PubMed1993

Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome.

Three fetuses with TAR (thrombocytopenia with absent radii) or TAR variant syndrome were found to be thrombocytopenic during the third trimester of the pregnancy. These findings indicate that fetal blood sampling, besides ultrasonography, skeletal radiographs, or even fetoscopy, may indeed contribute to the prenatal diagnosis of TAR syndrome, and thus may help in differentiating TAR syndrome from other syndromes with malformations of the upper limbs.

Abnormalities, Multiple↗
PubMed1992

In vivo 13C-NMR evaluation of glycogen content in a patient with glycogen storage disease.

Glycogen storage disease was suspected in a 10-month-old boy. Initial technical problems did not permit the determination of the precise enzyme, deficiency, and type VI glycogen storage disease was only diagnosed at the age of 2 years. In the mean time, natural abundance 13C nuclear magnetic resonance evaluation of muscular and hepatic glycogen content indicated normal muscular glycogen and increased hepatic glycogen in our patient, a finding which strongly argued for the diagnosis of type VI glycogen storage disease. Even though the use of nuclear magnetic resonance might seem, in this situation, a somewhat circuitous means of reaching the diagnosis, it appears that nuclear magnetic resonance could provide a useful tool for a non-invasive diagnosis of glycogen storage diseases.

Creatine↗
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↗
PubMed1992

Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

A boy, born to first cousin parents of Algerian origin, first presented at the age of 9 years with growth failure, mental retardation, and dysmorphic facies. Progressive vitiligo developed from the age of 12 and distal duplication of the urethra was later recognised. The basis of this syndrome remains to be determined; autoimmune disease, chromosomal breakage syndromes, and other neurocutaneous syndromes have been excluded.

Abnormalities, Multiple↗
PubMed1992

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

BACKGROUND: Several mutations in the human phenylalanine hydroxylase (PAH) gene have been described and it may be interesting to tentatively correlate mutant genotypes and clinical phenotypes of phenylketonuria (PKU). METHODS: Twelve mutations were searched for using classical techniques of molecular biology in a total of 126 patients. 3 phenotypes were arbitrarily defined: typical PKU, atypical PKU or Mediterranean form, and persistent mild hyperphenylalaninemia. The patients were classified according to the residual in vivo PAH activity. RESULTS: Mutations were found in 64 patients. One mutation was found in each of the 2 alleles in 20 children. Only one mutation could be identified in the other 44. Only 45 children could be assigned to a phenotype. Mutations leading to total loss of PAH activity were associated with typical PKU (in homozygotes or compound heterozygotes). Mutations leading to residual PAH activity were associated in homozygotes with atypical PKU; they were also associated in compounded heterozygotes with atypical PKU, irrespective of the fact that the other allele suppressed enzyme activity or was unknown. A mutation which changed the affinity of PAH for phenylalanine was associated with mild hyperphenylalaninemia. CONCLUSION: The clinical heterogeneity of PKU can be correlated with identified mutations of the human PAH gene. Molecular studies do not help to predict either the phenotype or the long-term outcome. However, description of the biochemical changes combined with identification of the mutation should lead to a better understanding of consequences of mutation for PAH activity.

Child↗
PubMed1991

Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.

A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or from Mediterranean countries (136 alleles). Only 27% of all mutant alleles were found to carry identified mutations, particularly mutations at codon 252 (2.3%), 261 (7.5%), 280 (6.3%), 408 (3.5%) and at the splice donor site of intron 12 (6.3%). The mutant genotypes were associated with RFLP haplotypes 7, 1, 38, 2 and 3 at the PAH locus respectively. Except for the splice mutation of intron 12, these associations were preferential, but not exclusive, since the other four mutations were found on the background of at least two RFLP haplotypes. These results, together with the observation that 85% of PAH deficient patients are heterozygotes for their mutant genotypes, emphasize the great heterogeneity of PAH deficiencies in Mediterranean countries and hamper systematic DNA testing for carrier status in this population.

Africa, Northern↗
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↗