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M Desgeorges

Publications and source records attributed to M Desgeorges.

At least 55 records · Page 3Linked to original sources
PubMed1992

Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.

In the search for mutations in the cystic fibrosis gene in patients from the Mediterranean area, we have analysed exons 4, 9, 10, 19, and 21 by the single-strand conformation polymorphism (SSCP) technique in 50 patients with at least one non-delta F508 chromosome. Ten samples demonstrated a shifted band, four in exon 19 and six in exon 21. Sequencing of the PCR fragments has led to the identification of three new sequence alterations, two in exon 19 (3737 delA and I1234V), and one in exon 21 (N1303H). We also analysed the frequency of two known intronic polymorphisms in front of exon 19 (C to A change at nucleotide 3601-65) and exon 21 (G to A change at position 4006-200).

Base Sequence↗
PubMed1992

Tumour resection by stereotactic laser endoscopy.

Recent advances in neuro-imaging have led to the early diagnosis of increasingly smaller and more deeply-seated tumours. Conventional neurosurgical techniques are often not satisfactory to deal with these lesions. The authors describe their preliminary experience with a prototype neuro-endoscope. The technical characteristics of the instrument and description of its use in performing stereotactic laser tumour resection are provided.

Brain Neoplasms↗
PubMed1992

Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

We have analyzed 131 unrelated families from Southern France for 29 known cystic fibrosis (CF) mutations identified in 8 exons of the cystic fibrosis transmembrane regulator gene. All these mutations were detected by amplification of DNA by the polymerase chain reaction (PCR) followed by restriction enzyme digestion or hybridization with allele specific oligoprobes. The most frequent mutations after the delta F508 deletion (frequency: 63%) were G542X (5.3%), delta I507 (1.1%), and N1303K (0.76%). Seven other mutations (621 + 1G --> T, Y122X, R347P, R334W, S549N, G551D, R1162X) were each identified in only one CF chromosome. Apart from G542X, most of the other mutations identified in this study were found to be associated with 7-(GATT)-repeats allele of IVS6A. In Southern France, only 73% of CF chromosomes could be identified by the analysis of 30 mutations.

Chromosomes, Human↗
PubMed1992

[Laser microsurgery of meningioma. An analysis of a consecutive series of 164 cases treated surgically by using different lasers].

Over a six years period, 224 laser procedures were performed in our clinic, of these 164 (72%) involved meningiomas of various intracranial and spinal locations; 82 (50%) tumors were located in the posterior fossa, 36 (32%) were suprasellar or parasellar meningiomas: a carbon dioxide laser was used in 56 cases, a double wave length YAG laser in 101 cases, and recently a simultaneous Nd YAG and CO2 combolaser in 7 cases. Complete tumor removal was accomplished in 83% of cases and overall mortality was 3%. We think that microscope guided laser techniques represents a significant advancement in the ability to remove deep situated meningiomas that might prove difficult to extirpate by conventional microsurgery. The advantages of these methods include: 1. reduced brain retraction; 2. the ability to operate with smaller and different exposures; 3. a reduced amount of mechanical manipulation by vaporizing in first the dural attachment; 4. improved operative precision and 5. decreased intra operative blood loss.

Adult↗
PubMed1991

MRI and stereotaxis. Choice of an approach route on an independent console.

The authors report their experience of cerebral stereotaxis for biopsy purposes. Since January 1990, they have been using MRI which provides vascular images and makes it possible to simulate surgical procedures beforehand. The authors have developed a specific program on an independent console. MRI sections are acquired with a 1.5 Tesla Sigma (G.E.) apparatus in 3DFT volume and T1-weighted SPRG sequence, after gadolinium injection. The sections are memorized and reconstructed by a SUN computer. After automatic recognition of the referential of a Leksell G plane, the target and the puncture vector are chosen by a radiologist and a neurosurgeon. The X, Y, Z co-ordinates of the point of puncture and the angles of penetration into the cerebral volume are delivered automatically. Provided the entire measurement chain is constantly tested and corrected if necessary, the precision of the system is of the order of one millimetre.

Brain Mapping↗
PubMed1990

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.

We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distinct types of X chromosomes to his offspring. This original observation may be explained by postulating that the DMD mutation must have occurred during mitosis in early germline proliferation, leading to a germline mosaicism within this male ancestor.

DNA Probes↗
PubMed1990

Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France.

A sample of 235 individuals from 49 French cystic fibrosis (CF) families with at least one living affected child was typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene, and was screened for the delta F508 mutation. Using a combination of six probes, 44 out of the 49 families were sufficiently informative to enable prenatal diagnosis or carrier determination. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV2c: allele 1; KM19: allele 2), which accounts for about 78% of CF chromosomes in our families. The delta F508 deletion was present in 64.3% of CF chromosomes.

Chromosome Deletion↗
PubMed1990

Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family.

Samples from 30 members of a french cystic fibrosis (CF) family had to be typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene, to fulfill the expectations of twenty-two low-risk relatives who were asking for carrier testing. Classical linkage-disequilibrium data between KM-19 and XV-2c polymorphisms and the CF locus were not informative enough for some individuals, and other RFLPs had to be analyzed to determine which chromosomes carried the deficient gene in the family. We report the retrospective screening for delta F508 mutation in this extended family to illustrate the drastic improvements that the direct detection of the major mutation responsible for CF has on genetic counselling of relatives of patients with cystic fibrosis.

Blood Proteins↗
PubMed1990

[Preservation of auditory function in the excision of acoustic neuroma].

Selection criteria for the preservation of auditory function during excision of acoustic neurinoma have been defined for a long time, and the means for a successful achievement of such a goal are widely known. Recruitment of special patients, for whom maintenance of an even deeply altered hearing capacity constitutes a requisite for continuation of professional work has lead us to extend indications for the pre- and retrosigmoid approaches recommended by J.M. Sterkers. The authors present a series of 16 patients, in which a single case of cophosis was deplored.

Audiometry↗
PubMed1989

[Acoustic neurinoma of the elderly].

Over the last six years, 19 neurinomas, including 11 measuring between 3 and 4 centimetres, have been operated on in patients aged over 70. One 85-year old male patient died. With one exception, all the cases presented disorders of balance and/or vertigo, which were cured or improved by surgery. The authors discuss the operatory indication, stressing the possibility of monitoring the increase of the neurinomas through magnetic resonance imaging, the possibilities of preserving the facial nerve, and the value in all cases of using the translabyrinthine approach.

Age Factors↗
PubMed1989

[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy].

The polymerase chain reaction is a new powerful method for in vitro cloning of specific regions of DNA. The use of the heat-stable DNA polymerase made the reaction amenable to automation. This method greatly facilitates the detection of mutations which are responsible for Duchenne muscular dystrophy, via DNA amplification of multiple deletions prone exons from the DMD gene.

Chromosome Deletion↗
PubMed1989

[Ballistic approach in head injuries caused by missiles].

If the missile head injury treatment is relatively well codified, wound ballistic, on the other hand, is not well known of neurosurgeons. Different means of study and tissue simulants are being listed. In face of numerous contradictory results, we shall only retain the M.L. Fackler method with 10% gelatin. Experimental results will depend on: 1. Missile parameters. For instance, in soft homogeneous tissue, one can discern shells with an uncertain path, full jacketed bullets which tumble after a variable "neck", and non jacketed missiles which cause wound through "mushrooming" and/or fragmentation effect. Buckshot wounds obey the rule "all or none". 2. Body reactions, particularly the clash with a hard material like bone, which can overturn everything described in soft tissues. These wound ballistic notions have lead us to formulate two pathogenic hypothesizes, allowing us to understand sometime case reports which had first seemed paradoxical: the brain structure, enclosed in the skull will not able to survive any major temporary cavity, the more or less deep missile pathway through the skull will be very different according to the type and energy of the missile, and to the hardness of pierced bone.

Craniocerebral Trauma↗
PubMed1987

[Early syringomyelia following benign cervical injury. Contribution of postoperative MRI].

The authors show an observation of a post traumatic syringomyelia syndrome which gradually developed a few months after a cervical sprain. The diagnosis has been mentioned after the discovery of a "big medulla" with myelography and computed tomography. The presence of a cervical cystic cavity with viscous liquid has been confirmed by surgery. A syringosubarachnoïd shunt has been carried out with excellent post operative results as the patient has recovered all his sensory and motor functions. For the pathogenic hypothesis mention is made of a small subclinic early hematomyelia which then develops on its own to form a genuine syringomyelic cavity. The authors emphasize the future interest of M.R.I. for the pathogenic diagnosis as well for the post operative effects.

Adult↗
PubMed1987

[Combination of traumatic vascular and neural lesions of the limbs. Surgical approach. Apropos of 10 cases].

Ten cases of limb injuries including vascular and nervous lesions are reported. After pointing out the modalities of diagnosis, the authors describe the surgical technic: vascular management first, and then nervous repair. After a six months to three years follow-up, among eight cases, the vascular repair is successful every time, and the nervous repair five times. Although each technic is usually easy, the association of both lesions needs the collaboration of multidisciplinary surgical teams.

Adult↗