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Biomedical subjects

J M Le Fur

Publications and source records attributed to J M Le Fur.

At least 19 recordsLinked to original sources
PubMed1989

[Adrenoleukodystrophy in the child and adrenomyeloneuropathy. Study of 2 families].

Ten subjects from 2 families with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN), hereditary X-linked diseases, were systematically explored. We performed endocrinological, biochemical assays and neurophysiological tests; the latter consisted of nerve conductions (CNV), Hoffmann's reflex and multimodal evoked potentials: visual (flash and pattern, VEP), brainstem auditory (BAEP) and somesthetic (SEP) using median nerve stimulation at the wrist. We only considered values above 2 SD. The purpose of our study was to determine the correlation between neurophysiological and endocrinological perturbations and the presence of pathological traits. Our results suggest that the correlation is high in diseased male patients, lower for the ALD carriers (BAEP, SEP and CNV were more frequently abnormal) and very low for the AMN carriers. Only the biochemical assays appeared to have any value for the characterization of female carriers of ALD and AMN.

Adolescent↗
PubMed1989

[The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case].

The Laurence-Moon-Bardet-Biedl syndrome (LMBB) is characterized by the association of obesity, hypogonadism, polydactyly, mental retardation and pigmentary retinitis. Symptomatic or asymptomatic renal dysplasia (calyceal diverticula, precalyceal tubular ectasia, cysts) is frequently associated with LMBB. The authors consider renal sonography as the convenient investigation for an early detection of such dysplasia as in the case they reported here.

Child↗
PubMed1989

[Suspicion of Haemophilus influenzae endocarditis of the bicuspid aortic valve in a 7-month-old infant].

The authors report a case of probable Haemophilus influenzae endocarditis in a 7 month-old infant with a bicuspid aortic valve. Precocity of the occurrence of endocarditis in such asymptomatic cardiac abnormality, scarcity of the suspected germ, and the observed mode of evolution are underlined. This case raises the problem of an endocardial involvement in an infant properly treated by adapted intravenous antibiotherapy. It can be concluded that regular clinical and echocardiographic examination is necessary for every case of severe Haemophilus influenzae infection.

Aortic Valve↗
PubMed1988

[Systemic scleroderma in children].

A new case of systemic scleroderma in a child is reported. The frequency of this disease is much lower than focal scleroderma and than other connective diseases in childhood. Kidney and heart involvement is much less common than in adults. Raynaud's phenomenon and scleroderma however, as in this case, are often severe. The appropriate treatment has to be efficient towards sclerosis (D-penicillamine, corticosteroids), Raynaud's phenomenon (protection from cold, nifedipine) and other manifestations (prevention of gastric ulceration, physical therapy) and should consider every possible adverse effect on a growing organism.

Adrenal Cortex Hormones↗
PubMed1987

[Apropos of a familial case of adrenoleukodystrophy related to X chromosome diagnosed prenatally].

The juvenile type of adrenoleukodystrophy is a X linked genetic disorder involving the central nervous system and the adrenal cortex. It is associated with an abnormal metabolism of saturated very long chain fatty acids. The basic defect remains unknown and there is presently no effective treatment. The authors report a familial observation which illustrates the efficacy of the techniques of identification of heterozygote females carriers and of prenatal diagnosis from trophoblast biopsy.

Abortion, Therapeutic↗
PubMed1985

Metabolic pathway by cleavage of a furan ring.

14C-Diclofurime, a new Ca antagonist, was administered orally to dogs and pigs, and metabolites detected in urine and plasma. Metabolites contained in pooled urine were concentrated by column chromatography (reverse phase, gel permeation and normal phase). Chemical structures were determined by i.r. mass and 1H n.m.r. spectroscopy. The main route of Diclofurime biotransformation involved cleavage of the furan ring. Subsequent biotransformation steps involved N-deethylation in the side-chain and O-demethylation in the aromatic moiety of the drug. The major pathway is unusual for molecules with a furan heterocycle.

Animals↗
PubMed1985

[Familial adrenoleukodystrophy].

Adrenoleucodystrophy (ALD) is an X-linked hereditary disease concerning very long chain fatty acid (VLCFA) metabolism. It affects cerebral white matter and adrenal cortex. In the adult form, (adrenomyeloneuropathy) we also find hypogonadism. The enzymatic anomaly, yet unknown, takes place in the peroxisome. The illness is diagnosed by plasma VLCFA amount determination. We actually have no efficient treatment. Prenatal diagnosis is possible, using both biochemical assays and linkage analysis to a DNA probe.

Adrenal Cortex↗
PubMed1983

[Infant encephalopathies with rapid EEG rhythms. Apropos of 2 cases].

The authors report two cases of infant encephalopathies with psychomotor retardation. The cerebrospinal fluid, the electroretinogram, the electromyogram and the motor conduction velocity are normal. The neuromuscular cutaneous conjunctival biopsies are normal. No biochemical abnormalities are found. The electroencephalogram presents continuous high voltage fast rhythms (250-400 microV) with reduced or absent evoked responses. Early infantile neuroaxonal dystrophy and lissencephaly are suggested.

Axons↗
PubMed1982

[Accidental localized vaccinia. A report of six recent cases (author's transl)].

Vaccination against smallpox should be discontinued in all countries except for individuals with a high risk of exposure (WHO, 1980). Since this vaccination is performed less and less often, one must expect complications to occur, the etiology of which may not be recognized. This course of events leads the authors to point out the difficulties in diagnosis and therapy of localized accidental vaccinia encountered in six patients hospitalized in Brest (1971-1979). Diagnosis is considered if the patient himself, or a person he came in contact with, was recently vaccinated. Diagnosis should always be established by virology. Such accidents can be avoided by a faultless vaccination technique and by giving sufficient information to the inoculated subject or to his relatives.

Adolescent↗
PubMed1982

Spontaneous spinal epidural hematoma in a 22-month-old girl.

The authors report the case of a 22-month-old girl who developed cervical pain, neck stiffness, and quadriparesis over 12 days. An epidural hematoma was removed, with complete recovery after 6 months. There was no history of trauma. A search of the literature revealed eight previous cases of spontaneous spinal epidural hematomas in children under the age of 10 years.

Female↗
PubMed1982

[Autochtonous kala-azar (author's transl)].

Kala-Azar or visceral "leishmanisis" is a Mediterranean parasitosis. Outside this area, the reported cases concern children having lived in an endemic area. Real autochtonous Kala-Azar is really exceptional in France. The authors report a case in a 18 month-old child, who had never left the city of Brest. The authors study similar observations in the literature, including an analysis of the different modes of transmission in such cases.

Animals↗