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Biomedical subjects

L Vallée

Publications and source records attributed to L Vallée.

At least 19 recordsLinked to original sources
PubMed2001

[Fetal alcohol syndrome: nervous system damage and clinical phenotype].

Alcohol is much more slowly eliminated in the fetus than in the mother (< 50%). The ethanol and its derivative the acetaldehyde have a constant dose-effect on the development of the nervous system central. The individual susceptibility to alchol teratogenic effect in utero is responsible of variable clinical phenotype. This teratogenicity is constant during all the development of the central nervous system. The diagnosis of fetal alcohol syndrome (FAS) associates three criteria: delay of pre- and postnatal growth, abnormal development of the central nervous system, craniofacial abnormalities. Cerebral malformations are extremely variable, being to relate to the various stages of development of the nervous system central. Neurochimic abnormalities interest mainly the mono-aminergic system. The backwardness is the best known consequence of SAF (34 to 851%). It is not constant. Facial dysmorphic results of joint abnormalities whose none is pathognomonic but whose grouping is evocative. Psychomotor instability is the most frequent expression on the behavioral phenotype.

Abnormalities, Drug-Induced↗
PubMed2001

[BREV: a new clinical scale for the evaluation of cognitive function in school-age and preschool-age children].

BREV (Batterie Rapide d'Evaluation des fonctions cognitives) is a new evaluation test for the screening of cognitive disorders in 4-9-year-old children, based on a neuropsychological process. It is made up of 17 subtests which have been carefully standardized. It is not an intelligence test but a tool for children' health professionals to use as a rapid neuropsychological screening test. It is particularly recommended for any child with a school learning disorder or neurological history with a high risk of cognitive disturbances such as epilepsy. It may also be used as a systematic screening test.

Child↗
PubMed2000

[Attention deficit disorder with hyperactivity in children: diagnosis and therapeutic management].

Criteria of attention deficit disorder with hyperactivity are defined in DSM IV and CIM 10. This syndrome is a model associating in the same entity, psychogenic and neurobiologic mechanisms. The diagnosis requires a rigorous analysis of the semiology, circumstances, and factors. Treatment cannot be simply reduced to the prescription of a psychostimulant drug or clonidine and must be adapted for each patient. Support of parents and teachers, and psychopedagogic and learning disorders management are described.

Adolescent↗
PubMed2000

Valproic acid intoxication identified by 1H and 1H-(13)C correlated NMR spectroscopy of urine samples.

Analysis of biological fluids by proton and carbon nuclear magnetic resonance spectroscopy (1H and 13C NMR) is a promising tool in clinical biology. We used this method for rapid toxicological screening in the case of two suicide attempts. For each case, a urine sample was analysed at 300 MHz by 1D and 2D sequences (TOCSY and HMBC) in a short experimental time. Quantification was performed by peak integration on the 1D 1H NMR spectrum. For the two patients, results showed the same resonances of the major metabolite, valproyl-O-glucuronide at concentrations of 121 and 44 mmol/l.

Adolescent↗
PubMed1999

[Febrile convulsions and other occasional convulsions in children].

Febrile convulsions are the main etiology of the occasional convulsions. They occur between 6 months and 5 years. They are short, bilateral, clonic or tonico-clonic. Febrile convulsions are classified in 2 groups: benign febrile convulsions and complicated febrile convulsions. When it exists, the genetic predisposition is a significant factor recurrent of febrile convulsions, but their prognosis remains good. Treatment depends on the diagnosis of simple or complicated febrile convulsions. The treatment of febrile convulsions is intra-rectal diazepam (0.5 mg/kg). The risks of recurrence of convulsions are inversely proportional to the intensity and duration of the fever episode before the convulsion.

Anticonvulsants↗
PubMed1999

[Epidemiologic study of multihandicapped children in the north of France].

PATIENTS AND METHODS: The files of 440 severely handicapped children in the north of France were studied. These children had severe mental retardation and very poor motricity development. The methods of care and nursing were studied. RESULTS: Amounts these patients, 40.4% were in medico-social centers, 30% in non-medico-social centers, and 29.4% lived at home with their parents. Only 6% were unknown by the departmental commission of specialized education (CDES). The rate of prevalence of the severely handicapped children from 5 to 19 years in the north of France was 0.7 per thousand. CONCLUSIONS: Results are compared with those from an INSERM study about handicap patients in 14 French counties.

Adolescent↗
PubMed1999

[Holoprosencephaly with neurogenic hypernatremia].

BACKGROUND: Semi-lobar holoprosencephalies can be seldom complicated by neurogenic hypernatremia, which must be distinguished from other causes of hypernatremia. CASE REPORT: In two admitted children with semi-lobar holoprosencephaly, 7 months and 4 years old, biological data revealed chronic hypernatremia and hyperosmolarity without clinical signs of dehydration, which were finally attributed to a neurogenic hypernatremia. CONCLUSION: Neurogenic hypernatremia must be clearly differentiated from other causes of hypernatremia since it never causes specific complications.

Child, Preschool↗
PubMed1999

Design, anticonvulsive and neurotoxic properties of retrobenzamides. N-(Nitrophenyl)benzamides and N-(aminophenyl)benzamides.

Design, anticonvulsant properties in maximal electroshock-induced seizures [MES] and seizures induced by subcutaneous administration of pentetrazole (scPtz), and neurotoxicity of retrobenzamides (N-(nitrophenyl)benzamides and N-(aminophenyl) benzamides are reported. These data are further compared with those on carbamazepine, phenytoin, ameltolide and other reference compounds. Studies on retrobenzamides in mice dosed intraperitoneally point out a good anticonvulsant potential in the MES test for the amino derivatives (N-(aminophenyl)benzamides) and moderate activity for corresponding "nitro" derivatives. In rats dosed orally, aminoretrobenzamides were, however, less active in the MES test than in mice dosed intraperitoneally. Differences between experimental animal species and administration routes lead to hypothesize rapid metabolization of compounds, reduced intestinal resorption and increased removal from body. The presence of a methyl substitution on the N-phenyl moiety of aminoretrobenzamides attenuated these discrepancies between mice and rats. Present results indicate that pharmacological values--including the dose offering anticonvulsant protection in 50% of tested animals (ED50) and protective indices--obtained on some retrobenzamides may compete with phenytoin and carbamazepine values. By contrast with phenytoin, some retrobenzamides further exhibit activity in the scPtz test.

Administration, Oral↗
PubMed1999

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental retardation, associated in the first sib with transient autistic behaviour. Some dysmorphic features of CLS (in particular forearm fullness and tapering fingers) and many atypical findings (some of which were reminiscent of FG syndrome) were observed as well. The moderate phenotypic expression of this mutation extends the CLS phenotype to include less severe mental retardation and minor, hitherto unreported signs. The missense mutation identified may be less deleterious than those previously described. As this mutation occurs in a protein domain with no predicted function, it could be responsible for a conformational change affecting the protein catalytic function, since a non-polar amino acid is replaced by a charged residue.

Abnormalities, Multiple↗
PubMed1999

[Analysis of two cases of valproic acid intoxication by 1H NMR spectroscopy and gas chromatography/mass spectrometry].

Analysis of urine samples from two poisoned patients was performed using proton nuclear magnetic resonance (1H NMR) spectroscopy and a classical GC/MS protocol. Valproic acid as its glucuronide was identified and quantified in the 1H NMR spectra recorded directly from 0.5 mL of the collected samples. Moreover, a significant lactic aciduria could be observed. Comparison with the GC/MS findings suggests that 1H NMR spectroscopy can be clinically useful.

Acidosis, Lactic↗
PubMed1998

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations.

We report on an interstitial duplication of the long arm of chromosome 11 [46XX,dup(11) (q23.3)] in a girl with atypical Rett syndrome (RS). This case was discovered during a systematic cytogenetic study of RS. Fluorescent in situ hybridization including total chromosome painting and use of regional specific YAC, cosmid and plasmid probes, was used to confirm the chromosome 11q involvement and to identify the landmarks of the smallest 11q duplication reported to date. The findings are compared to cases of trisomy 11q reported previously, all of which have a larger duplication and different clinical manifestations. Surprisingly, mental retardation and behavior disorders are less severe in these cases.

Adult↗
PubMed1998

Acquired and isolated asymmetrical palatal palsy.

Benign acquired and isolated asymmetrical palatal palsy is a rare condition in childhood. We report on three cases. Typical features include: sudden onset, abnormality of the palatal components of speech (rhinolalia), nasal escape of fluids from the ipsilateral nostril. It is supposed to be caused by viral infection, but attempts at viral isolation were unsuccessful. Complete spontaneous recovery is usual, taking a few weeks. Our paper seems to be the first report of magnetic resonance imaging of the brain in this condition. It did not disclose any abnormalities in the 2 cases in which it was performed.

Child↗