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M Desgeorges

Publications and source records attributed to M Desgeorges.

At least 37 records · Page 2Linked to original sources
PubMed1996

First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

Cystic fibrosis (CF) is thought to be rare in the black populations of Africa who have minimal white admixture. Only a few cases have been reported but have not been studied at the molecular level. We report the detection of CFTR mutations in three southern African black patients. One was homozygous for the 3120 + 1G-->A mutation, while the other two were compound heterozygotes each with this mutation on one chromosome. The other mutations were G1249E and a previously unreported in frame 54 bp deletion within exon 17a involving nucleotides 3196-3249 (3196del54). The 3120 + 1G-->A mutation was first described in American black patients and has been shown to be a common mutation in this population (9-14% of CF chromosomes). It was also found in a black CF patient whose father, the 3120 + 1G-->A carrier, is from Cameroon. These data suggest that it is an old mutation which accounts for many of the CFTR mutations in African blacks.

Adult↗
PubMed1996

[Toxic aluminum encephalopathy. Predominant involvement of the limbic system on MRI].

Two patients underwent acoustic schwannoma surgery by transmastoid approach. Petrous bone defect was filled in with aluminium-containing bone cement (Ionocem). A pseudomeningocele by CSF accumulation in subcutaneous temporoparietal area appeared after the procedure and, in subsequent weeks, encephalopathy with confusion and seizures. MRI showed cerebral involvement with herpes-like disposition. Temporal stereotactic biopsy in a case did not confirm viral encephalitis but disclosed cellular accumulation of lipofucsin and particles highly suggestive of aluminum-inclusions. Aluminium's levels in blood and CSF of both patients were very high and confirm the brain's toxic involvement. Aluminium's toxicity would be advocated in patients with neurologic disorders who have undergone maxillofacial or skull bone-cementoplasty by an aluminum-containing biomaterial, if this cement is in contact with CSF.

Aged↗
PubMed1995

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). This uncommon missense mutation (frequency less than 1% in a sample of 336 CF chromosomes from Southern France) replaces a leucine by a tryptophan residue in the middle of the third transmembrane domain of CFTR. On the basis of the clinical features presented by the four patients, we postulate that the L206W might be associated with pancreatic sufficiency and residual transmembrane transport of chloride in lung.

Adolescent↗
PubMed1995

[Surgery for meningioma of the posterior skull base. 135 cases. Choice of approach and results].

One hundred and thirty-five patients with posterior skull base meningiomas were seen and treated by a neurosurgical-neurotological team over the last 12 years. Ten tumors were "true" clival meningiomas and 125 were posterior petrous meningiomas: 25 were located anterior to the internal auditory meatus (IAM) (zone A); 29 were located around the IAM (zone M) and 18 were posterior to the IAM (zone P). 53 tumors had a larger zone of implantation and are accordingly called AM (31 cases), MP (15 cases), AMP (7 cases). The choice of routes was guided by a radiological anatomy classification system (17). Transpetrous approaches, alone or in combination with subtemporal transtentorial or retrosigmoid approaches were the surgical routes of choice for posterior petrous meningiomas, making it possible to reach the tumoral osteodural implantation, reduce the tumoral mass and perform a subarachnoidal dissection of the tumor poles. A retrolabyrinthine (RL) approach allows access to zone P and a translabyrinthine approach to zone MP. Zones A, M and P can be reached via the anterior extended translabyrinthine (AETL) approach. Anterolateral transclival approaches with apex petrectomy were used to reach the clival meningiomas with a wide implantation zone. Standard microsurgical techniques were used in 32 cases and 103 procedures included the use of a microscope-guided laser. Complete tumor removal was accomplished in 88% of cases (120/135). Overall mortality was 3.7% (2 cases at 30 days and 3 cases between 31 days and 1 year).

Aged↗
PubMed1994

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.

Several recent studies have demonstrated the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in healthy males with infertility caused by congenital absence of the vas deferens (CBAVD), previously recognized as an idiopathic genetic condition distinct from CF. In order to document further the genetic commonality of these two disorders, we undertook a double screening of the entire coding and flanking sequences of the CFTR gene, by using single-strand conformational polymorphism analysis and denaturing gradient gel electrophoresis in 12 unrelated infertile men with abnormalities of the vas deferens and/or epididymis. This strategy allowed us to identify 11 DNA sequence alterations considered as CF-causing mutations and several variations. Despite this double analysis, only two patients out of eight with CBAVD could be demonstrated as compound heterozygotes for CF mutations.

Adult↗
PubMed1994

[Anatomo-radiological classification of meningioma of the posterior skull base].

Between 1972 and february 1993, 140 posterior skull base (clivus and posterior aspect of the petrous bone) meningiomas were seen and treated in our department. Since 1982, we use an anatomo-radiological classification system which is suggested here as a standard classification method for comparison among series of these tumors. Once a meningioma of this region has been discovered the problem is to establish as precisely as possible: its site of origin which will provide evidence of the likely direction of displacement of the blood vessels and nerves of the region. Its exact area of attachment is of prime importance in selecting the best surgical approach. Its size and tumoral extensions which will often dictate the addition of other approaches to allow complete removal. THE SITE OF ATTACHMENT (140 CASES): The posterior skull base may be subdivided into four zones: the clival zone: which comprises the clivus itself and that part of the petrous apex situated medial to the trigeminal impression; the posterior surface of the petrous bone itself subdivided into three roughly equal zones; *an anterior zone (zone A) situated between the trigeminal impression and the anterior lip of the IAM, *a median zone (zone M) from the anterior lip of the IAM to a line immediately posterior to the labyrinthine block, *a posterior zone (zone P) extending from this line to the sigmoïd sinus. In our series, we find meningiomas of the posterior skull base with a discrete site of attachment in the clival zone (10 cases), zone A (29 cases), zone M (31 cases), zone P (19 cases) others have a much wider attachment encompassing two or even three zones, zone A. M (29 cases), zone M. P (15 cases), zone A. M. P (7 cases). THE STAGE OF THE TUMOR: The tumor's base of implantation having been precisely defined, the stage of the tumor is then determined by measuring the distance between the tumor surface and the line of attachment. In our series, 131 tumors were measured: 13 tumors were stage I (tumors with an encroachment into the angle of less than 1 cm), 38 tumors were stage II (1-1.9 cm), 37 tumors were stage III (2-2.9 cm), 43 tumors were stage IV (more than 3 cm). TUMOR EXTENSIONS: These are appreciated on axial, coronal and sagittal images (MRI). Meningiomas of the clivus may extend [8 cases]: very commonly to the petrous apex (zone A) [7 cases], almost always to the tentorium [7 cases], often to the cavernous sinus [5 cases].(ABSTRACT TRUNCATED AT 400 WORDS)

Cranial Fossa, Posterior↗
PubMed1994

[Surgical approach to petroclival meningioma. Value of translabyrinthine approach extended to the petrous apex].

Petro-clival meningiomas are rare tumors. Because of their deep location in the posterior fossa, many surgical approaches have been proposed, generally with severe post-operative morbidity and mortality. Thirty-six meningiomas of the petrous apex (34 posterior surface of petrous bone meningiomas, 2 clivus meningiomas) were operated, via a trans petrosal approach, from 1983 to 1993. In 14 cases, the trans-labyrinthine (TL) approach, extended by drilling the bone above the internal auditory canal (IAC) was performed (39%). In 18 cases the TL approach was extended in a subtemporal, transtentorial approach (50%). In one case (2.5%), after rerouting the facial nerve posteriorly, the TL approach was extended anteriorly in a transcochlear approach. The retro-sigmoïd approach was performed in one case (2.5%). The extended middle fossa approach was performed in two cases of clivus meningiomas (5%). Total excision was obtained in 27 cases (75%). By using the Laser, quality of resection is increased. Most complications and morbidity were encountered with tumors extending towards the cavernous sinus. Extended translabyrinthine approach allows total excision in most of cases of petro-clival meningiomas. For clivus tumors or tumors invading the cavernous sinus, the extended middle fossa approach and subtotal petrosectomy are proposed respectively.

Adult↗
PubMed1994

[Stereotaxy in MRI].

The first biopsy in Val-de-Grâce has been performed in 1987, under CT alone, with a Leksell frame. 150 punctures have been performed for a diagnostic or a therapeutic goal. Since 1990, stereotaxy is performed under MRI. 320 punctures have been made with 1.9% mortality and 1.3% morbidity. The future of stereotactic technics is therapeutic: precision of surgery (vascular malformation, neurogenous tumor, deep tumor), precision of radiotherapy, new anti-tumoral treatments.

Brain Diseases↗
PubMed1993

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.

In order to characterize the non-delta F508 mutations that account for 36% of cystic fibrosis (CF) chromosomes in Southern France in a sample of 137 patients, we have systematically screened the entire coding region and adjacent sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by the single strand conformation polymorphism (SSCP) technique followed by direct sequencing of the mutant DNAs. We identified 13 novel mutations (9 reported in this paper) and 4 novel rare nucleotide sequence variations. Forty different mutations including delta F508, located in 15 exons, account for only 91.2% of mutants in a population originating from Southern France, in contrast with a recent report on the Celtic population of Brittany demonstrating that 90% of mutations can be detected with only three mutations. We present a very large spectrum of different CF mutations identified in a small geographical area.

Alleles↗