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G Aubin

Publications and source records attributed to G Aubin.

At least 37 records · Page 2Linked to original sources

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↗

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↗

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↗

[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↗

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↗

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↗

[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↗

[Bronchiolitis].

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Bronchiolitis, Viral↗

[Several factors to distinguish anosognosia from denial after a brain injury].

This Article deals with the question of ignorance after a serious brain injury. The main purpose of this research is to present some factors that are critical for the differential diagnosis of anosognosia (organic etiology) and denial (psychological etiology) in order to improve the rehabilitation strategies of brain injuried population. In the present work we report the case study of MG (Havet-Thomassin, 2000). MG is a 32 Year old right handed man who has undergone a severe brain injury after a car accident. Neuropsychological approach of ignorance is mainly landed from questionnaire assessment of deficit. The QAM (Questionnaire of self assessment of memory performance, Van der Linden et al., 1988) and the PCRS (Patient Competency Rating Scale, Roueche et Fordyce, 1982) where used for the neuropsychological assessment of anosognosia. The neuropsychological baseline was obtained from classical executive tasks (TMT, Stroop, TOL, WCST) in order to show a possible link between executive dysfunction and anosognosia. The results point several cognitive impairments (attention, memory, executive functions) and an inadaptated behavior associated to an important anosognosia particularly at the beginning of the hospitalization (absence of self-criticism and bad compliance to rehabilitation). Furthermore, the patient was interviewed regularly in order to better dissociate denial from anosognosia. This clinical approach facilitated the understanding of the inherent psychological dynamic of MG which was particularly exacerbated by the frontal desinhibition. Characterization of identity profile and homosexuality are of great interest in this case as they were strongly reactivated by the traumatism. The brain injury leads to the reorganization of the whole identity of MG which seems no more unified but divided. Reality principle was responsible for too much anxiety which became probably acute by a narcissistic flaw. Therefore it encourages the subject to deny in order to guarantee to himself a psychic balance. Thus, at the beginning, MG denies totally his homosexuality and then, he admits it progressively declaring that it has disappeared since the accident. He progressively developed an excessive aggressiveness in regard of the homosexual community insinuated unconsciously from his discourse his feminine and passive position (slips, denegations). This denial is critical for MG's psychic integrity and that is why the priority should not be its suppression. From this work, we consider that anosognosia remains independent of the patient's will, but still linked to the dysexecutive syndrom. In opposite, the denial corresponds to defensive and strategic processes devoted to the subject adaptation to an agonizing situation. Even if those two clinical facts appear similar, it is possible to propose several factors in order to distinguish anosognosia from denial: 1) anosognosia and denial don't seem to turn on the same elements; 2) anosognosia seems to be more transitional on the contrary of the denial which appears to be more chronic; 3) behavior reaction in the case of anosognosia seems to be partially different from the denial; 4) as compared to anosognosia, denial appears less stable and more uncertain depending on the psychic cost. In conclusion, distinction between anosognosia and denial would allow the clinical psychologist to propose a more adaptated therapy for the patient. Denial must be taken in a dynamic perspective and not as a direct negative consequence of the cerebral injury. In such situation, the priority is not to suppress denial but rather to consider it is the way the subject should face laborious situations imposed by the reality.

Adult↗