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Biomedical subjects

J Vigneron

Publications and source records attributed to J Vigneron.

At least 19 recordsLinked to original sources
PubMed2002

Leaching of diethylhexyl phthalate from polyvinyl chloride bags into intravenous etoposide solution.

OBJECTIVE: To compare the release of diethylhexyl phthalate (DEHP) from polyvinyl chloride (PVC) bags from four different manufacturers into intravenous etoposide solutions. METHOD: Etoposide solutions, 0.4 mg/mL, containing the vehicle polysorbate 80 were prepared in 5% dextrose or 0.9% sodium chloride injection PVC bags and stored at room temperature for 24 h. DEHP content was analysed by high-performance liquid chromatography. RESULTS: Substantial amounts of DEHP (up to 20 microg/mL at room temperature) leached into the etoposide solutions. However, no significant differences were found in the amounts of DEHP leached into the etoposide infusion solutions prepared using either 5% dextrose or 0.9% sodium chloride injection and stored in the four different containers. CONCLUSION: To minimize patient exposure o DEHP, etoposide solutions should ideally be stored in a glass or polyolefin container.

Antineoplastic Agents, Phytogenic↗
PubMed2001

[Evolution of the hospital pharmacies in public and private hospitals in the cancer network in Lorraine: Oncolor].

With the objective of improvement of quality in oncology, an assessment of chemotherapy practice in hospital pharmacies in public and private hospitals was carried out by the regional committee of oncology in Lorraine. The 36 hospitals reporting using chemotherapy, had varied practices. The results of this survey lead to the elaboration of guideline for hospital pharmacies in the oncology regional network Oncolor. This paper describes the different aspects of the hospital pharmacies in public and private hospitals included in the network Oncolor from 1996 to 2000. In 1996, 9 hospital pharmacies had centralized preparation for chemotherapy, whereas at the end of 2000, 26 pharmacies on 28 will fulfill the guidelines.

Computer Communication Networks↗
PubMed2000

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.

UNLABELLED: Costello syndrome was first described in 1971. Besides papillomata, which were part of the initial description, patients tends to develop benign tumours of ectodermal origin. Aetiology is yet unknown but it is supposed to be the result of a sporadic dominant mutation. We report six patients with typical clinical findings and emphasise the importance of cardiac manifestations and the tendency to develop tumours. One patient developed an embryonal rhabdomyosarcoma, the occurrence of which has been reported twice before in patients with Costello syndrome. CONCLUSION: There might be a causal link between the development of rare tumours and this genetic disorder which may provide a new clue concerning the identification of the gene involved in Costello syndrome.

Cardiomyopathy, Hypertrophic↗
PubMed1999

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy. Both diseases are characterized by structural abnormalities of the muscle fibres and variable degrees of muscle weakness. We have identified 15 different missense mutations resulting in 14 different amino acid changes. The missense mutations in ACTA1 are distributed throughout all six coding exons, and some involve known functional domains of actin. Approximately half of the patients died within their first year, but two female patients have survived into their thirties and have children. We identified dominant mutations in all but 1 of 14 families, with the missense mutations being single and heterozygous. The only family showing dominant inheritance comprised a 33-year-old affected mother and her two affected and two unaffected children. In another family, the clinically unaffected father is a somatic mosaic for the mutation seen in both of his affected children. We identified recessive mutations in one family in which the two affected siblings had heterozygous mutations in two different exons, one paternally and the other maternally inherited. We also identified de novo mutations in seven sporadic probands for which it was possible to analyse parental DNA.

Actins↗
PubMed1999

Determination by capillary zone electrophoresis of mercaptopurine and thioguanine concentration in capsules for paediatric patients.

OBJECTIVE: Mercaptopurine monohydrate and thioguanine are two antineoplastic agents that inhibit purine metabolism. They are given by mouth in the treatment of acute leukaemias, usually for the maintenance of remission. In order to quantify these two antimetabolites into capsules for paediatric patients prepared in the pharmacy department, a capillary zone electrophoresis method (CZE) was developed. METHOD: The equipment and reagents used included: a P/ACE 5000 capillary electrophoresis system, a 37 cm x 75 microm silica capillary, a 22.2 mM borate buffer (pH 9.0), 5 s high pressure injections, direct UV detection at 280 nm, run 20 kV. Hypoxanthine was used as an internal standard. RESULTS: All compounds were separated in less than 3 min using a constant voltage of 20 kV. At a theoretical concentration of 100 microg/ml, the accuracy (average percentage of recovery = 98.9%, RSD = 0.45%, n = 6 for mercaptopurine and average percentage of recovery = 101.7%, RSD = 0.20%, n = 6 for thioguanine), the repeatability (RSD = 0.84%, n = 6 for mercaptopurine and RSD = 0.75%, n = 6 for thioguanine), the reproducibility (RSD = 0.58%, n = 18 for mercaptopurine and RSD = 1.55%, n = 18 for thioguanine) and the linearity of detection (range 50-150% of the studied concentration, r > 0.999 for mercaptopurine and r > 0.998 for thioguanine) were satisfactory. The capsule excipients did not interfere with quantification of the mercaptopurine or thioguanine peak. CONCLUSION: The two antineoplastic agents could be assayed rapidly by the same capillary zone electrophoretic method with acceptable accuracy and precision. This method is suitable for routine control of capsules prepared for paediatric patients.

Antimetabolites, Antineoplastic↗
PubMed1999

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.

Abnormalities, Multiple↗
PubMed1998

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

Intracerebral cysts and porencephaly or arachnoid cysts are rarely but are repeatedly reported in orofaciodigital (OFD) syndrome type 1. We report on 2 families in which OFD syndrome type 1 was observed with central nervous system (CNS) malformations and 3 sporadic cases of OFD with CNS defects, most likely representing fresh mutations for OFD 1. In one case, vermis hypoplasia was present; in another, periventricular heterotopiae were noted. We review the literature on CNS anomalies in OFD syndromes and stress the difficulties in genetic counseling and functional prognosis for children of OFD 1 female carriers prenatally diagnosed with a malformation of the brain. As for CNS malformations, renal cystic disease is an often overlooked complication specific to OFD 1. In 1 family, cystic medullary disease was noted in OFD 1 carriers, leading 1 patient to dialysis by age 35 years and the other to severe renal insufficiency by age 28 years. Longitudinal follow-up of OFD 1 carriers should be performed, and renal function should be assessed in those with cysts because the functional prognosis of this developmental anomaly may be worse than usually reported in the literature.

Central Nervous System Diseases↗
PubMed1997

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family. The expression pattern of the murine EYA1 orthologue, Eya1, suggests a role in the development of all components of the inner ear, from the emergence of the otic placode. In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches.

Adult↗
PubMed1997

Stability of refrigerated and frozen solutions of tropisetron in either polyvinylchloride or polyolefin infusion bags.

OBJECTIVE: To investigate the stability of 50 microg/ml tropisetron in 0.9% sodium chloride or 5% dextrose injections on storage in either 100 ml polyvinylchloride (Tuliflex) or polyolefin (Clear-flex) infusion bags, at +4 degrees C and -20 degrees C. METHOD: A stability-indicating high-performance liquid chromatography (HPLC) assay was used to measure residual drug at day 0 (D0), D8, D15, D30, D60 and D90 for each bag. Samples were tested for pH at D0, D60 and D90. Frozen samples were thawed in a microwave oven according to a validated procedure before analysis. RESULTS: In 0.9% sodium chloride and 5% dextrose, no degradation products were observed in any of the chromatograms. No admixtures, at any time, contained less than 98.2% of the initial concentration. Only minor changes (-0.12 unit) in pH occurred over the storage period. No colour or other visual changes were seen in any sample. CONCLUSION: Tropisetron (50 microg/ml) in either 0.9% sodium chloride or 5% dextrose is chemically stable in polyvinylchloride or polyolefin bags for at least 3 months when stored in a refrigerator or in a frozen state.

Drug Stability↗
PubMed1997

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder, characterised by the association of branchial, otic and renal anomalies with variable degrees of severity. We have recently identified EYA1 , a human homologue of the Drosophila eyes absent gene, as the gene underlying this syndrome. The products of both genes share a highly conserved 271 amino acid C-terminal region (eyaHR). The eyaHR was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family. We report here on the complete genomic structure of EYA1. This gene consists of 16 coding exons and extends over 156 kb. It encodes various alternatively spliced transcripts differing only in their 5' regions. Sequence analysis of the entire EYA1 coding region was performed for 20 unrelated patients affected by BOR syndrome, and six novel mutations were identified. Among these mutations, two are missense mutations, highlighting amino acid residues essential for the function of the EYA1 protein, and one mutation comprises a de novo Alu insertion into an exon. This insertion presumably occurs by retrotransposition, and the mobile Alu element has a poly(A) tail that is unstable throughout generations. To date, 14 mutations have been detected in BOR patients, all of which are different. However, all the mutations are located within or in the immediate vicinity of the eyaHR; the significance of this clustering is discussed.

Amino Acid Sequence↗
PubMed1997

[Unusual facial clefts].

After briefly review facial morphogenesis, the authors define facial clefts, distinguishing primary clefts, secondary clefts, and residual clefts. They discuss the uncertainties surrounding the embryology and clinical features of palpebral colobomas. The various pathogenetic concepts are analysed: amniotic hypothesis, vascular hypothesis, fusion defect. The various classifications of rare facial clefts are reviewed, with particular emphasis on Tessier's classification and the so-called Milan classification. The general principles of surgical treatment are described together with the various skeletal and soft tissues procedures.

Craniofacial Abnormalities↗
PubMed1991

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.

Abnormalities, Multiple↗