Biomedical subjects

G Aubin

Publications and source records attributed to G Aubin.

At least 19 recordsLinked to original sources

PubMed1995

Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations.

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Adolescent↗

PubMed1994

Disease knowledge and reproductive attitudes of parents having a child with cystic fibrosis.

Saguenay Lac-Saint-Jean (SLSJ), a geographically isolated region located in northeastern Quebec, has an incidence of cystic fibrosis (CF) of 1 in 902 live births and a carrier rate of 1 in 15 inhabitants. Forty two families among those registered at the local chapters of the Canadian CF Foundation were randomly selected. A multiple-choice questionnaire was applied during an interview. It included 102 questions pertaining to the sociodemographic status of the participants, their knowledge of the disease and their reproductive attitudes. All the educational and socioeconomic levels were represented in the sample; 76% of the respondents were married. Before answering the questionnaire, 86% estimated their knowledge of the transmission of CF to be good or excellent; in fact, the rate of good answers to various questions ranged from 71 to 95%. The birth of a child with CF had a major impact on further pregnancy planning (a 69% reduction or arrest). Seventy one percent of the respondents used a more effective contraception method (including vasectomy and tubal ligation) after the birth of the CF child; in 63% of them, the decision was a direct consequence of the presence of the disease in the family. Thirty four respondents (81%) knew that prenatal diagnosis was available; 90% were in favor of such a prenatal test but only 17% would have required an abortion should the fetus be affected.

Abortion, Induced↗

PubMed1993

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

We have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 + 1G-->T and 711 + 1G-->T mutations. Total RNA isolated from the nasal epithelial cells and Epstein-Barr virus-transformed lymphoblasts derived from this patient was reversely transcribed and a region extending from exon 3 to exon 7 of the gene was amplified by the polymerase chain reaction and analyzed. Three abnormal products were identified, suggesting the presence of three aberrant transcripts, and their profiles were identical in both cell types. Two of the products were found to be missing either exon 4 or exon 5 as anticipated from the transcripts from the 621 + 1G-->T or 711 + 1G-->T alleles, respectively. The third product was apparently derived from an alternatively spliced mRNA species in the absence of the nominal splice site (in 621 + 1G-->T) through the use of a cryptic splice donor sequence (TT528/GTGAGG) within exon 4. Although reading frames appeared to be preserved in all three putative transcripts, significant portions of the presumed first and second transmembrane spans as well as the immediately following cytoplasmic domain would be deleted from the mutant CFTR polypeptides, if made. These observations are consistent with a loss of CFTR function in this cystic fibrosis patient.

Alleles↗

PubMed1992

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.

The French-Canadian population in the Saguenay-Lac St. Jean region of northeastern Quebec has an elevated frequency of cystic fibrosis (CF). The average incidence of cystic fibrosis was 1 in 891 births and the prevalence of CF carriers was estimated to be 1 in 15. We tested for 10 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 133 French-Canadian CF families from Quebec. Ninety-one families were from the Saguenay-Lac St. Jean region and 42 families were referred from other regions of Quebec. We detected the CFTR mutation in 93 and 92% of the CF chromosomes in the Saguenay-Lac St. Jean and the major-urban Quebec families, respectively. The two groups of French-Canadian families were significantly different for the proportions of CFTR mutations. The three most common mutations in the Saguenay-Lac St. Jean families were delta F508 (58%), 621 + 1G----T (23%), and A455E (8%); and in the major-urban Quebec families were delta F508 (71%), 711 + 1G----T (9%), and 621 + 1G----T (5%). These results provide evidence for the role of founder effect in the elevated incidence of cystic fibrosis in the Saguenay-Lac St. Jean population.

Cystic Fibrosis↗

PubMed1992

Incidence of cystic fibrosis in Saguenay-Lac-St.-Jean (Quebec, Canada).

The incidence of cystic fibrosis (CF) in Saguenay-Lac-St.-Jean, a geographically isolated region of Quebec, was estimated to be 1 in 902 during the period 1975-1988. The carrier rate was calculated to be 1 in 15 inhabitants. The high incidence of CF in Saguenay-Lac-St.-Jean is probably the result of a founder effect and genetic drift for one or more mutations. Historical, demographic, and social factors also may have contributed to the high incidence.

Carrier State↗

PubMed1991

[Traumatic amnesias. Memory disorders consecutive to head injuries].

Traumatic amnesia is a good index predictive of the disablement due sequelae of cranial injuries. The residual memory deficit, correlated with the return to work, mainly affects long-term memory, learning, verbal memory and sensitivity to interferences. The most relevant tests are Rey's 15 words--and particularly their retrieval at 30 minutes--and the verbal fluency test, but the changes in memory observed in the patient's daily life must also be evaluated. Rehabilitation tends to rely on the overall management of intellectual and behavioural disorders, as part of programmes that are specific to subjects with cranial injury.

Amnesia↗

PubMed1991

Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).

Cystic fibrosis (CF) is an autosomal recessive disorder with a prevalence at birth estimated at 1/2000-1/2500 livebirths in Caucasian populations. Some 127 CF individuals are known in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of Quebec. The prevalence at birth was estimated at 1/902 live borns, and the carrier rate was estimated at 1/15 inhabitants in the SLSJ region. The mean inbreeding coefficient was only slightly elevated in the CF group compared with three control groups, and was due to remote consanguinity. The mean kinship coefficient was 2.4 times higher in the CF group than in the control groups. In SLSJ region, the places of origin of the CF individuals and their parents did not show a clustered nonuniform distribution. Endogamy was not higher in the CF group than in control groups.

Consanguinity↗

PubMed1991

Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada.

Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results showed no monthly or seasonal birth variation. It is likely that a bias owing to incomplete ascertainment might explain why some previous studies found a seasonal trend in the birth distribution of cystic fibrosis.

Cystic Fibrosis↗

PubMed1991

[Value of the neuropsychological evaluation in cerebral arterial aneurysms surgically treated].

Early examination (3 months) of 81 patients, operated on for ruptured cerebral aneurysms, by neurosurgeons and neuropsychologists show significant differences between them both; the neuropsychological evaluation has the best predictive value as far as the outcome is concerned especially regarding the return to their initial job (69% after a year in this series). The outcome also depends on the age, the preoperative grade, and the professional qualification. The aneurysm location and the date of the operation are not so important. Early neuropsychological evaluation enable us to start a rehabilitation program for socio professional reinsertion and to improve the quality of life.

Adolescent↗

PubMed1985