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Biomedical subjects

B Cuvelier

Publications and source records attributed to B Cuvelier.

13 recordsLinked to original sources
PubMed2001

[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology].

UNLABELLED: Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized. CASE REPORT: A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter. Molecular biology showed a deletion of very small size, isolated and located between the gene missing aryl sulfatase E and the microsatellite DXS 1233, sping gene MRX2 (non-specific gene of mental retardation), and making it possible to give the reassuring elements as regards the psychomotor prognosis, sometimes compromised in this disorder. CONCLUSION: In case of chondrodysplasia punctata with dysmorphy, it is important to execute a chromosomal chart in the search for a chromosomal reorganization on the X and a study in molecular biology.

Arylsulfatases↗
PubMed1997

Possible person-to-person transmission of Escherichia coli O111--associated hemolytic uremic syndrome.

Over a 3-month period, ten children (aged 1-13 years) from a 15-km radius in southern Picardy developed typical D+ hemolytic uremic syndrome (HUS). Polymerase chain reaction, using two pairs of verocytotoxin 1-(VT1) and VT2-specific oligonucleotide primers and an internal control was used to detect VT genes directly from stools samples. VT2 gene was detected in seven of nine patients' stools and in 5 of 14 contacts' stool samples. A VT2-producing Escherichia coli (VTEC) O111 was isolated from five of nine children's stools and in 3 adults' stools of the 14 tested. A retrospective case-control study was performed which showed a higher rate of absence in school A, where the first four cases were detected, compared with a control school. The odds ratio for the whole school was 2.77 (confidence interval 1.46-5.26), and 15 (confidence interval 2.54-115.6) if only the nursery classes were considered. A culture of all food samples from households was always negative for VTEC. A retrospective cohort study performed in 89% of children attending school A showed no linkage between food or drink and gastroenteritis. These findings emphasize the potential for person-to-person transmission of VT2-producing E. coli O111, since the only salient risk factor was close contact.

Adolescent↗
PubMed1984

[Bilateral galactocele in an infant].

The authors report a case of a 2 month-old male baby with bilateral mammary gland swelling diagnosed as galactocele that resolved after simple puncture. Galactocele, or milk filled mammary gland cyst, is a possible complication of the neonatal genital crisis, but may also appear after the first months of life. This condition has been described only in males and was rarely noted in the literature. It should be considered as one of the possible causes of infantile gynecomastia.

Age Factors↗
PubMed1979

[The cerebro-oculo-facio-skeletal syndrome].

A further case of the cerebro-oculo-facio skeletal syndrome is described. The child, the first of healthy parents with no significant family history, died on the 4th day of life because of renal failure and respiratory difficulties. The dysmorphic features were microcephaly, microphthalmia, high nasal bridge, lax skin with a prominent skin fold extending below the eyes, large upper lip, fixed flexion deformities of the limbs, short fingers with campodactyly, talus valgus and longitudinal plantar groove. At autopsy there was renal agenesis, a hypoplastic bladder, bilateral cataract with atrophy of the iris and retina. The relationship between Potter's syndrome and other oculo renal syndromes are discussed. The diagnosis is important because this syndrome is inherited as an autosomal recessive.

Abnormalities, Multiple↗