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Biomedical subjects

A Nivelon-Chevalier

Publications and source records attributed to A Nivelon-Chevalier.

12 recordsLinked to original sources
PubMed2001

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. A locus (BSCL1) has been mapped to 9q34 with evidence of heterogeneity. Here, we report a genome screen of nine BSCL families from two geographical clusters (in Lebanon and Norway). We identified a new disease locus, designated BSCL2, within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13. Analysis of 20 additional families of various ethnic origins led to the identification of 11 families in which the disease cosegregates with the 11q13 locus; the remaining families provide confirmation of linkage to 9q34. Sequence analysis of genes located in the 11q13 interval disclosed mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families. BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function. Most of the variants are null mutations and probably result in a severe disruption of the protein. These findings are of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.

Acanthosis Nigricans↗
PubMed1995

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant malformation of the eyelids that may severely impair visual function. Chromosomal aberrations involving chromosomes 3q23, 3p25 and 7p34 have been reported in BPES but the disease gene has not been hitherto localized by linkage analysis. We have mapped a gene for BPES to chromosome 3q23 in a large French pedigree (Zmax = 4.62 at Theta = 0 for probe AFM 182yc5 at locus D3S1549). The best estimate for the location of the disease gene is at locus D3S1549, between the loci D3S1292 and D3S1555 (maximum lod score of 5.10).

Abnormalities, Multiple↗
PubMed1995

[Congenital pachyonychia, neurofibromatosis and sensory-motor polyneuropathy].

INTRODUCTION: A 71-year-old man consulted because he could not walk due to spots of hyperalgic, invalidating plantar keratodermia. A nearly identical symptomatology was observed in several members of the family suggesting an autosomal dominant hereditary disease due to painful callosities as described by Roth in 1978. CASE REPORT: The patient had pachyonychia on all fingers and toes, only the ring fingers and the fifth toes were not involved. Multiple epidermoid follicular cysts were also found on the trunk suggesting the diagnosis of type II hereditary pachyonychia or Jackson-Lawler disease. Axonal polyneuropathy was also found with cutaneous signs of neurofibromatosis. Cytology studies were performed in order to elucidate the relationship between these different findings. It was not possible to retain the diagnosis of complex axonal polyneuropathy as described by Tolmie where autosomal dominant inheritance of early onset ungueal dystrophy is associated with punctuated palmoplantar keratodermia and hereditary sensoromotor axonal neuropathy. CONCLUSION: This patient presented several types of complex neurocutaneous manifestations which could not be successfully related to each other.

Aged↗
PubMed1991

[Retrocervical cystic hygroma: diagnosis, prognosis and management. A series of 13 cases].

Fetal cystic hygroma (CH) are congenital malformation of the lymphatic system which are seen in antenatally ultrasonography from the end of the first trimester of pregnancy. From a 13 CH retrospective study, the authors discuss the ultrasound diagnosis, the prognosis and the management of CH. In our study, CH is associated with lymphedema (69%), hydrops (46%), diminution of amniotic fluid (69%) and other abnormality (31%). In all cases a diminution or an absence of fetal movement are found. In seven cases a cytogenetic analysis are performed on amniocentesis or fetal tissues: there are five 45XO, one 47XX + 13 and one 46XX. In six cases the chromosome culture failed: two male phenotypes and two histologic appearances of chromosomic anomaly. The prognosis depends on chromosome analysis, other ultrasound abnormality and the size of CH. It is usually fatal in utero. If chromosome anomaly are found, a genetic counsel is proposed.

Adult↗
PubMed1989

[Familial benign neonatal seizures: EEG, clinical, prognosis and genetic features].

The authors describe 3 families in which several members presented convulsions exclusively during the neonatal period. The EEG and clinical findings showed typical short neonatal convulsions lasting several months and with no apparent etiology. The dominantly inherited transmission is certain. Prognosis is very good, although 14% of the cases in the literature present an onset of epilepsy after 20 years of age. Even though this phenomenon is unusual, the rarity of its description probably stems from lack of knowledge rather than low incidence. We thus would like to show that, even in the neonatal period, familial epilepsy can occur.

Female↗
PubMed1983

[Congenital generalized cutis laxa].

Congenital cutis laxa is a rare disorder of the elastic tissue in which lax skin gives a premature senile appearance. We report a new case of this disease associated with craniosynostosis. In the literature, the genetics of cutis laxa are not clear. Fleischmajer and Matus (18) considers an inherited autosomal recessive or an incomplete autosomal dominant trait, Mehregan (33) reports an autosomal recessive mode of transmission and Byers (10) an X-linked form. Among these cases, the most serious visceral involvement is the development of pulmonary emphysema. However, in cutis laxa with development retardation, variety of minor injury of the skeleton, the prognosis seems appears to be better.

Cutis Laxa↗
PubMed1982

[Intracranial aneurysm and polycystic kidneys].

Five cases of intracranial aneurysms with polycystic kidneys are reported: --15% of polycystic kidneys have an intracranial aneurysm, and about 4% - 5% of intracranial aneurysms are joined with polycystic kidneys; --the surgical treatment of intracranial aneurysm with this association doesn't present more risk than an intracranial aneurysm, and the surgical prognosis isn't bad; --the pathogeny isn't clear. This association is perhaps a congenital elastic system disease.

Adult↗