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Biomedical subjects

B Labrune

Publications and source records attributed to B Labrune.

At least 19 recordsLinked to original sources
PubMed1995

Monosomy 21q: two cases of del(21q) and review of the literature.

We report on two cases of partial monosomy 21 and review cases with a partial or an apparently full monosomy 21. In situ hybridization and/or molecular studies appear to be necessary tools to study imbalance in such a small chromosome and to perform further genotype-phenotype correlations. The segregation mode in cases with a translocation is adjacent 1, adjacent 2, and 3:1 in about 1/4, 1/4 and 1/2 of the cases, respectively.

Child, Preschool↗
PubMed1994

[Primary conjunctival-palpebral lymphedema and Milroy disease].

An 18-year-old girl had swelling of both upper and lower extremities due to chronic hereditary lymphoedema. She had bilateral eyelid and conjunctival lymphoedema. This is an ocular manifestation of Milroy's disease: primary and secondary forms of lymphoedema may occur and are discussed.

Acute Disease↗
PubMed1993

[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency].

BACKGROUND: The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia. Like Bardet-Biedl syndrome, its inheritance is autosomal recessive. This paper describes the endocrine investigation of a new family of Laurence-Moon syndrome subjects. CASE REPORT: The 5 patients (3 girls, 2 boys) in this family of 12 sibs, all suffered from retinopathy, mental retardation and first metacarpal hypoplasia with proximal placement of thumb. All five had had spastic paraplegia since the age of 5-6 years, growth retardation and hypogonadism. Two had had seizures; only one was obese. RESULTS: Four patients (2 girls, 2 boys, aged 19, 15, 18 and 19 years) had low basal plasma FSH and LH levels. They had no FSH-LH response to gonadotropin-releasing hormone; their plasma testosterone and oestradiol concentrations were very low. The growth hormone peak in response to arginine-insulin were low in these 4 patients (1.5 ng/ml; 3.8 ng/ml; 5 ng/ml; 4.8 ng/ml). One boy and one girl were given sex steroids for a few months, with good effect on their sexual characters. Their growth hormone levels remained low (2.9 ng/ml, 6.5 ng/ml). One boy was given FSH and LH analogues with good effects on sexual characters and testicle growth. He was also given growth hormone, and had a growth spurt of 5.5 cm after 9 months treatment. CONCLUSION: The hypogonadism of Laurence-Moon patients seems to be of central origin. It is associated with growth hormone deficiency.

Adolescent↗
PubMed1991

[Diabetes mellitus, diabetes insipidus, optic atrophy and deafness].

In France, the combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) is designated as Wolfram syndrome. An analysis of 14 personal cases and previous reports showed that the syndrome develops gradually and specified the most common order of occurrence of the various components as well as the other abnormalities (e.g., of the urinary tract) which may be found. Wolfram syndrome is an inherited condition (recessive autosomal transmission). The lack of association with HLA antigens seems to have been established (in the few cases where HLA typing was performed). The prognosis of Wolfram syndrome is grim, with the occurrence of each additional component adding to the severity of the disease.

Adolescent↗
PubMed1988

[Isolated and transient hyperphosphatasemia in young children].

This report concerns a transient and isolated hyperphosphatasemia in a 33 month-old infant. Such a case is asymptomatic and benign. There is an important increase in enzymatic activity which includes both fractions (bone and liver). Pathophysiology is still unclear. This biological data is worth being known in order to avoid useless and always normal investigations.

Alkaline Phosphatase↗
PubMed1987

[Acquired polydipsia in infants].

The authors report a case of acquired polydipsia in an infant. The case was unusual in its presentation, its late onset (without anorexia, nor vomiting), and the normal salt-water balance contrarily to what is observed in water intoxication. The course was favourable after progressive conditioning.

Conditioning, Psychological↗
PubMed1986

[Renal diabetes. Apropos of 103 cases].

Three main concepts came out of this prospective study of 103 cases (51 girls and 52 boys) of renal diabetes followed up from 1955 to 1975 and reviewed in 1984: contrary to what is still sometimes written, renal diabetes does not evolve to diabetes mellitus; renal diabetes does not seem to progress over the years; the mode of genetic transmission, when present, which is rare, is obscure but it seems to occur in a recessive rather than a dominant fashion.

Adolescent↗
PubMed1985

[Lactobezoar in an infant].

The authors report a new case of lactobezoar in a 45 day-old infant. Vomiting was the presenting sign. The diagnosis was made using radiologic examination of the gastro-intestinal tract. Medical treatment (digestive rest and parenteral rehydration) resulted in a favourable outcome. The factors favouring such a situation and its management are analysed.

Animals↗