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Biomedical subjects

L de Parscau

Publications and source records attributed to L de Parscau.

At least 19 recordsLinked to original sources
PubMed2005

[Management of phenylketonuria and hyperphenylalaninemia: the French guidelines].

Phenylketonuria (PKU) is an inherited metabolic disease affecting about one birth out of 15 000. From 1978, a national systematic neonatal screening was set up in France with a regional organisation. French rational and guidelines have been established by the national PKU group with the collaboration of all the physicians responsible for the regional centres. These guidelines specify the minimal diagnosis procedures leading to an optimal treatment of all patients. A low-phenylalanine diet must be started as soon as possible in the neonatal period for all newborns whose phenylalanine levels are above 10 mg/dl. The dietary control must keep the phenylalanine plasma levels between 2 and 5 mg/dl until 10 years of age. After this age, several data argue for a progressive and controlled relaxation of the diet, keeping the phenylalanine level below 15 mg/dl until the end of the adolescence and below 20 to 25 mg/dl in adulthood. All PKU patients must be followed up for life, in order to screen those who may not bear the diet relaxation and in order to strictly prevent maternal PKU deleterious consequences.

Child↗
PubMed2002

[Nosocomial infections due to human coronaviruses in the newborn].

Human coronaviruses, with two known serogroups named 229-E and OC-43, are enveloped positive-stranded RNA viruses. The large RNA is surrounded by a nucleoprotein (protein N). The envelop contains 2 or 3 glycoproteins: spike protein (or protein S), matrix protein (or protein M) and a hemagglutinin (or protein HE). Their pathogen role remains unclear because their isolation is difficult. Reliable and rapid methods as immunofluorescence with monoclonal antibodies and reverse transcription-polymerase chain reaction allow new researches on epidemiology. Human coronaviruses can survive for as long as 6 days in suspension and 3 hours after drying on surfaces, suggesting that they could be a source of hospital-acquired infections. Two prospective studies conducted in a neonatal and paediatric intensive care unit demonstrated a significant association of coronavirus-positive nasopharyngal samples with respiratory illness in hospitalised preterm neonates. Positive samples from staff suggested either a patient-to-staff or a staff-to-patient transmission. No cross-infection were observed from community-acquired respiratory-syncitial virus or influenza-infected children to neonates. Universal precautions with hand washing and surface desinfection could be proposed to prevent coronavirus transmission.

Adult↗
PubMed2001

Neonatal screening and long-term follow-up of phenylketonuria: the French database.

BACKGROUND: In France, neonatal screening of phenylketonuria (PKU) started in 1966. A national association was created in 1978 in order to organise the neonatal screening program and to control the efficacy of the screening and patients' follow-up. AIMS: To evaluate the results of the French PKU screening program in terms of hyperphenylalaninaemia epidemiology, efficacy of the screening procedure, management and outcome of the patients. STUDY DESIGN: The national database has been filled-up first with the answers to questionnaires that were sent each year by the PKU patients' physicians, and second with the results of an additional inquiry, which was set up in 1994 in order to investigate diagnosis, treatment, and school outcome of all French PKU patients. RESULTS: PKU was diagnosed in 81.6% of patients with hyperphenylalaninaemia (HPA), non-PKU HPA in 17.2% and cofactor deficiency in 1.1%. From 1980, incidence of PKU has been stable: 1 per 17,124 live births. Sensitivity of the screening procedure was 99.3%. Age at diet initiation regularly decreased to reach 14 days as a median in 1996. Until 1990, median age at diet discontinuation was 6 years of age. Later, strict diet was continued longer (at least, up to 8-10 years). PKU patients who entered to secondary school at normal age were characterised by an earlier age at diagnosis and at diet initiation and a later age at diet discontinuation, compared to those who entered 1 year or more behind normal age. CONCLUSION: These data confirm the benefit of a nationwide organised screening program. They emphasise the importance of an early neonatal diagnosis and diet initiation in PKU patients and are consistent with the benefit of a longer period of strict diet in childhood.

Child↗
PubMed2001

[Bicycle helmet effectiveness in children: qualitative analysis of the literature].

In order to assess bicycle helmet effectiveness in preventing head injury in children, we performed an international qualitative and systematic review using the criteria of the French Health Accreditation and Evaluation National Agency (ANAES) developed for recommendations in clinical practice (formulation of a question, judgment criteria, collecting references, quality analysis, interpretation of results). Two hundred and thirty-four papers dealing with the subject were identified through a MEDLINE search. Two hundred and fifteen of them were eliminated as they did not meet selected criteria. Four were eliminated because of language criteria. On the 14 meeting all selection criteria, five were judged satisfactory according to qualitative criteria. All five conclude in favor of the effectiveness of the bicycle helmet even when taking bias into account. The real protection afforded by wearing a bicycle helmet militates in favor of its habitual use.

Bicycling↗
PubMed2001

Low rate of Candida parapsilosis-related colonization and infection in hospitalized preterm infants: a one-year prospective study.

We determined the rate of Candida parapsilosis colonization in preterm neonates (NN) and the relationship between colonization and systemic infection through a prospective study in the Neonatal Intensive Care Unit of a university hospital. All NN born at a gestational age of 32 weeks or less were included. Specimens from rectum, mouth and retro-auricular skin were obtained at admission and weekly thereafter. All samples were inoculated on to Sabouraud agar, CHROMagar and Dixon media. Candida species were identified using API Candida and API 20C. DNA analysis was performed using pulse field gel electrophoresis.Fifty-four patients were included (mean age: 30 +/- 1.5 weeks; mean birthweight: 1347 +/- 301 g; male: 40%). Fungal colonization was detected in 43 (79.6%). Causative agents were C. parapsilosis (N= 7);Malassezia furfur (N= 30);C. albicans (N= 21), C. guillermondii (N= 1). No sample was positive for two different yeasts at the same time. C. parapsilosis colonization included anal (N= 6), buccal (N= 1), and skin (N= 2). The average age at time of colonization was 17.8+/-9.8 days. Neither fungal septicaemia nor death were observed in colonized infants. Two central venous catheters were found to be colonized, one with C. parapsilosis and one with M. furfur. Logistic regression showed a link between colonization and gestational age alone. Three different DNA profiles were observed. This study suggests that in our units, the occurrence of C. parapsilosis colonization is low and bears no relation to systemic infection. The systematic identification of C. parapsilosis carriers for the purposes of isolation and preventive treatment does not appear to be warranted.

Candida↗
PubMed2001

Inheritance of a stable mutation in a family with early-onset disease.

Autosomal/dominant polycystic kidney disease (ADPKD) exhibits a high inter- and intrafamilial heterogeneity partly explained by the involvement of at least 3 different genes in the disorder transmission. PKD1, the major locus, is located on chromosome 16p. The occurrence of very early-onset cases of ADPKD (sometimes in utero) in a few PKD1 families or the increased severity of the disease in successive generations raise the question of anticipation. This is a subject of controversial discussion. This report deals with the molecular analysis in families with very early-onset ADPKD. The finding of the same stable mutation with such different phenotypes rules out a dynamic mutation. The molecular basis of severe childhood PKD in typical ADPKD families remains unclear; it may include segregation of modifying genes or unidentified factors and the two-hit mechanism.

Adult↗
PubMed1998

[Neuro-intellectual prognosis at school age for 62 children born with a gestational age of under 32 weeks].

AIM: The aim of this study was to detail the incidence of cerebral palsy in children born before 32 weeks of gestation and to evaluate the scholastic and intellectual performance in non-handicapped children. POPULATION AND METHODS: The population included 63 survivors hospitalized in 1984-85 (gestational age: 30.06 +/- 1.21 weeks; birth weight: 1386 +/- 267 g; inborn 60%; male: 38.7%; small for gestational age: 4.8%; hyaline membrane disease: 32%; European: 98.4%). Neurodevelopmental assessment was performed by pediatricians and psychologists using Wisc-R, visual screening by Monoyer scale, hearing by audiometry realized by oto-rhinolaryngologists. RESULTS: There were 62 survivors (one child dead by sudden infant death syndrome). Fifty children evaluated at a mean age of 9.3 +/- 0.7 years and written data available for another eight. Twelve children presented with cerebral palsy. Risk factors were ultrasound abnormalities of parenchymal brain and male gender. In children without cerebral palsy, we observed 12 visual and two hearing impairment. Three were in special education, 32 were in an age-appropriate level, nine with one year below. Neonatal events were not associated with the Wisc-R results except for ultrasound abnormalities of parenchymal brain. Wisc-R was strongly correlated with familial economic and education level. CONCLUSION: School performances in non-handicapped children born before 32 weeks is satisfying. Intellectual performance is mainly correlated with familial economic and education level.

Brain↗
PubMed1997

[Transitory hyperinsulinism with hypoglycemia in asphyxia neonatorum].

BACKGROUND: Hypoglycemia is a well-known complication in neonates small for gestational age and in those with diabetic mothers. Birth asphyxiated infants can develop severe hypoglycemia due to reduced glycogen stores. CASE REPORTS: The first patient was born at 41 weeks, weighing 3,780 g by emergency cesarean section because of fetal distress. He developed a pneumothorax and hypoglycemia. He was given glucose infusion (at day 4: 20 mg/kg/d). Hyperinsulinism was confirmed: blood levels at 18.3 mU/L on day 1 and 11.7 mU/L on day 2. The infusion rate was gradually decreased. The second patient was born at 39 weeks, weighing 2,780 g by emergency cesarean section because of fetal distress. She needed glucose infusion (24 g/kg/d) because of hypoglycemia with hyperinsulinism (12.8 mU/L on day 2 and 11.7 mU/L on day 3). After 5 days, the infusion of glucose was replaced by oral feeding only. CONCLUSION: Transient hypoglycemia in asphyxiated newborn infants with hyperinsulinism must be considered even when hypoglycemia may be difficult to prove.

Asphyxia Neonatorum↗
PubMed1997

[Focalized multiple beam radiotherapy: an alternative in the treatment of deep cerebral arteriovenous malformations].

BACKGROUND: Cerebral arteriovenous malformations are usually treated by excision or selective embolization. Some untreatable malformations may be presently cured by radiosurgery. CASE REPORT: A 10-year-old girl without previous illness suffered from a sudden quadriventricular hemorrhage due to arteriovenous malformation. Initially the child recovered with symptomatic treatment. Neurosurgery and arterial embolization being impossible, Gamma-Unit treatment was performed. Treatment was first well tolerated but 8 months later, left hemiparesis and language disorders occurred, due to radionecrosis. These complications were dramatically improved by corticosteroids. CONCLUSION: Gamma-Unit treatment can be successfully proposed for treating those malformations that are inaccessible to surgery or embolization.

Anti-Inflammatory Agents↗
PubMed1997

[Neonatal detection of central hypothyroidism].

BACKGROUND: Congenital hypothyroidism is very rare compared to primary hypothyroidism. Its early diagnosis may escape neonatal mass screening using TSH assay. CASE REPORT: Anthony was born at 37 weeks, weighing 3,060 g. He presented with hypotony, jaundice, tongue protrusion evoking congenital hypothyroidism. Thyroid function tests favored hypothyroidism central in origin, while the systematic neonatal screening was normal. CONCLUSION: Clinical signs of congenital hypothyroidism must lead to more specific tests when neonatal screening is normal.

Congenital Hypothyroidism↗