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M Desgeorges

Publications and source records attributed to M Desgeorges.

At least 19 recordsLinked to original sources
PubMed2004

[Postoperative quality of life for patients with a vestibular schwannoma].

OBJECTIVES: To determine the prognoses criteria of quality of life's impairment after vestibular schwannoma surgery. STUDY DESIGN: Our study includes retrospectively 104 consecutive patients operated between 1991 & 2000 of a vestibular schwannoma. Patients with bilateral tumors were not included, neither patients lost of follow-up. The french version of the Short Form-36 self assessment questionnaire was sent to all patients. RESULTS: The response rate was 68% (71 patients). The patients' postoperative quality of life was lower of the norm, especially for psychical dimensions. This impairing of health whatever age, tumor size, operative approach or follow-up time. Sex and 2nd surgery were the only factors associated with a lower score. Women had worse rating of physical functioning. CONCLUSION: To operate small tumors should not assume that the impact on patients'life would be necessary less than following the removal of larger tumors. Women should have particularly clear explications before surgery and while follow-up.

Adult↗
PubMed2002

[Contribution of perfusion magnetic resonance imaging in a patient with cerebral ganglioglioma].

A 48-year-old woman was admitted to the Neurosurgery Department for a large frontal lobe tumor revealed by partial seizures. The patient was conscious and alert. Neurological examination was normal. MRI study showed a right frontal lobe tumor compounded of an anterior solid mass strongly enhanced after gadolinium injection and a posterior voluminous cyst with important mass effect. The cerebral blood volume (CBV) map showed no area of elevated CBV within the tumor consistent with a low-grade tumor. The patient was operated on with a presumed diagnosis of anaplastic oligodendroglioma. Postoperative course was uneventful. Histopathological examination was consistent with a benign ganglioglioma. The patient did not undergo an additional treatment. One year later, the patient was healthy and neurological and neuropsychological examination were normal. MRI study did not show any recurrence. This case emphazises the relevance of perfusion MR imaging in the preoperative workup of glioneuronal and glial tumors.

Diagnosis, Differential↗
PubMed2001

Traumatic atlantoaxial rotatory dislocation with odontoid fracture: case report and review.

STUDY DESIGN: A case of traumatic rotatory dislocation associated with odontoid fracture is reported. OBJECTIVES: To report a rare case of traumatic rotatory dislocation associated with odontoid fracture, and to discuss the mechanism underlying spinal instability and management. SUMMARY OF BACKGROUND DATA: This case is a cross between traumatic rotatory fixation and atlantoaxial rotatory dislocation. Classification of rotatory subluxation change after osteosynthesis of the odontoid process was undertaken. METHODS: A 24-year-old man sustained head and cervical injury after jumping. A Type 2 odontoid fracture without displacement was noted. RESULTS: Without further traumatic event, 1 month after injury, computed tomography scan showed posterior displacement of the odontoid fracture and Type 4 or B atlantoaxial rotatory luxation. After surgical fixation and reduction of the odontoid fracture, the rotatory subluxation classification changed and became Type 1 or A. Posterior C1-C2 arthrodesis was performed. The patient wore a Philadelphia cervical collar for 3 months and underwent physiotherapy. CONCLUSIONS: As the pivot of rotatory subluxation changed after odontoid process osteosynthesis, posterior C1-C2 arthrodesis was performed. The patient probably could have been treated in a single-stage procedure using posterior C1-C2 transarticular fixation with bicortical interspinous graft.

Adult↗
PubMed2001

[CFTR gene analyis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA>G mutations].

UNLABELLED: The large molecular heterogeneity in cystic fibrosis (CF) represents the main difficulty for the genotype characterization. Moreover, numerous studies have reported considerable variations in frequencies of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in different populations. MATERIAL AND METHODS: We analyzed the genotype of 207 CF children living in southwest France. RESULTS: Among 50 identified mutations, we report for some of them a widely modified incidence compared with those observed in other regions of France. These differences were more significant in the subset of the CF chromosomes originating in southwest France. Thus, the 1811 + 1.6 kbA > G mutation, rarely observed in the other French regions (< 0.5%), proved to be, with a frequency of 8.8%, the most frequent mutation after the F508 deletion (57%). The frequencies of N1303K, 1811 + 1.6 kbA > G and R334W mutations were also clearly increased: 7.9 and 2.6%, respectively. CONCLUSION: We show that the southwest of France is characterized by a specific mutational spectrum. We consider that these regional data on the spectrum of CF mutations are crucial to develop more accurate and less expensive molecular screening strategies for cystic fibrosis in France.

Child↗
PubMed2001

The molecular basis of cystic fibrosis in South Africa.

The spectrum of CFTR mutations in three South African populations is presented. To date. a total of 192 white patients (384 chromosomes) with confirmed CF have been tested. deltaF508 accounts for 76% of the CF chromosomes in this group, with 3272-26A-->G, 394delTT and G542X occurring at the following frequencies: 4, 3.6 and 1.3%, respectively. A further 11 mutations account for 6% of CF chromosomes. A total of 91% of the CF-causing mutations can now be detected in the South African white population. Haplotype analysis suggests a founder effect in South Africans of European origin for the two common CFTR mutations, 3272-26A-->G and 394delTT. The diagnosis of CF has been confirmed in 14 coloured and 12 black CF patients. In the coloured population, both the deltaF508 and 3120 + 1G-->A mutations occur at appreciable frequencies of 43 and 29%, respectively. In the black population, the most common CF-causing mutation, the 3120 + 1G-->A mutation, occurs at an estimated frequency of 46%. Four other mutations have been detected, resulting in the identification of a total of 62.5% of mutations in this population.

Cystic Fibrosis↗
PubMed2001

[Atlanto-axial lateral mass osteoarthritis. Three case reports and review of the literature].

This report describes three cases of symptomatic unilateral C1-C2 mass osteoarthritis. The patients were all female aged 67, 62 and 59 years. One patient had a history of rheumatoid arthritis. Unilateral occipital pain was the main symptom. Neuroradiological work-up included open mouth anteroposterior radiograph, flexion/extension lateral radiograph of the cervical spine, CT scan with coronal and sagittal reconstruction and MRI. Findings allowed differential diagnosis with tumoral or infectious disease of upper cervical spine and ruled out C1-C2 instability. CT scan and MRI permitted precise operative planning by determining the course of vertebral artery in the C1 and C2 vertebrae. Two patients were treated by CT scan guided steroid injection. The third patient was treated by C1-C2 arthodesis after failure of conservative treatment.

Aged↗
PubMed2000

[Neuronavigation in third ventricle tumors].

The authors present the results of neuronavigation as a help to open neurosurgery for the tumors of the third ventricle. From January, 1995 to August, 1999, six image-guided surgical procedures were performed to remove third ventricle lesions : 4 colloïd cysts, 1 ependymoma, and 1 craniopharyngioma. The operative approach was transcortical in 5 cases, and transcallosal in 1 case. The use of neuronavigation allows a decrease of the surgical trauma during the surgical approach. The procedure secures the neurosurgeon in the choice and execution of his pathway to the target. It becomes however less accurate after opening the ventricle, because of the brainshift induced by the loss of cerebrospinal fluid becomes important. Nevertheless, neuronavigation is useful in the surgery of the third ventricle, especially if it is used with neuroendoscopy.

Adult↗
PubMed2000

[Arachnoid cysts of the middle fossa and associated subdural hematoma. Three case reports and review of the literature].

BACKGROUND AND PURPOSE: We report 3 cases of subdural hematoma associated with arachnoid cyst of the middle fossa, and discuss the treatment. METHODS: Three males aged 33, 63 and 68 were treated in our institution. Before this event the cyst was asymptomatic and unknown. Magnetic resonance imaging was the most contributive radiologic exam. Surgical procedure was limited to subdural hematoma evacuation. The internal wall of subdural hematoma was opened in all cases. RESULTS: The clinical outcome was good for all patients. The CT or MRI scan follow-up 3 months later revealed nearly total disappearance of subdural hematoma for 2 out of 3 cases. For one patient the volume of arachnoid cyst decreased. CONCLUSIONS: We propose subdural hematoma drainage without any specific treatment (shunt or fenestration) of the arachnoid cyst, for this category of patient.

Adult↗
PubMed2000

[Clinical application of functional MRI: a strategic tool for neurosurgery].

The purpose was to incorporate preoperative functional imaging data into anatomic data of operative microscope for neurosurgical procedures of patients suffering from lesions contiguous to eloquent brain areas. The day before surgery, patients bearing scalp markers underwent fMRI, just before anatomical contrast-enhanced MR images. FMRI data analysis were realised using a t test (p<0.0001). The resulting functional-anatomical images were downloaded onto a surgical neuronavigation computer in order to outline tumoral target and functional areas. At surgery, cortical stimulation has been used to confirm functional data. Functional image-guided surgery of lesions abutting functional cortex can be safely performed.

Adult↗
PubMed1999

[Rehabilitation of the paralyzed face by hypoglossal-facial nerve anastomosis. An analysis of 7 cases].

After facial nerve injury, in cerebello-pontine tumors surgery, hypoglossal-facial anastomosis is the most common procedure, to rehabilite a paralysed face, if direct facio-facial graft is not possible. This procedure must be done, in a second time, during the next year and followed with a specific reeducation. In seven patients operated between 1985 and 1996, we performed clinical evaluation and electrophysiological examination. The best evaluation is the clinical evaluation using the G. Freyss's facial testing. Best results are seen in early, specific and continued reeducation. All our patients have a good recovery of facial nerve function, but clinical examination and electrophysiological results are not correled with an objective video performance. The management of such patients needs efficient oto-neurosurgical team and specific trained physiotherapists.

Adult↗
PubMed1998

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mutation associated with CBAVD. However, the molecular basis of CBAVD is not completely understood. We have analysed the complete coding and flanking CFTR sequences by PCR-DGGE in 64 men with CBAVD from southern France with the aim to list any sequence alteration. Fourty-two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG,-33G->A).

Cystic Fibrosis Transmembrane Conductance Regulato↗
PubMed1998

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

Congenital bilateral absence of the vas deferens (CBAVD) is a cause of male sterility mostly resulting from mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The most common defect is the 5T variant at the branch/acceptor site of intron 8, which induces high levels of exon 9 skipping leading to non-functional protein. However, this 5T variant has incomplete penetrance and variable expressivity, suggesting that some other regulatory factors may modulate the splicing of exon 9. To identify such factors, we report here the genetic analysis of a polymorphic locus, M470V, located in exon 10 of the CFTR gene in 60 patients with CBAVD, compared to a normal control population. The statistical analysis showed strong linkage disequilibrium between the 5T allele and the V allele of the M470V polymorphism in the CBAVD population, but not in the normal population. The V allele in a gene carrying 5T could, however, contribute to lowering the level of normal transcripts, as already suggested by in vitro transcriptional studies. These genetic findings, together with previous studies, suggest involvement of the M470V variant in the modulation of the splicing of exon 9 of the CFTR gene.

Alleles↗
PubMed1997

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

Cystic fibrosis (CF) is thought to be rare among the Arab populations from the Middle East and little data have been reported so far. We have studied a sample of 20 families living in Lebanon for several generations and who have at least one child with CF. These families are mainly from the Maronite, Greek Catholic, Greek Orthodox. Shiite or Sunnite groups. We found a 50% rate of consanguineous marriage, independent of the community of origin. The distribution of CF genotypes was determined through the screening of all exons of the CFTR (cystic fibrosis transmembrane conductance regulator) gene by the technique of denaturing gradient gel electrophoresis combined with asymmetric amplification DNA sequencing. A total of ten different mutations accounting for 87.5% of 32 unrelated CF alleles was identified, including two novel putative mutations (E672del and IVS21-28G-->A). Three mutations, delta F508 (37.5%), W1282X (15.6%), and N1303K (9.4%) accounted for 62.5% of CF alleles. Interestingly, in the Maronite group, 66.7% of the delta F508 chromosomes were found to be associated with allele 7 of the IVS8(T)tract, contrasting with the absolute linkage disequilibrium between European delta F508 chromosomes and allele 9. During this study, two previously undescribed polymorphisms (IVS14a + 17del5 and 2691T/C) were also identified.

Arabs↗
PubMed1997

[Imaging networks, surgical simulation, computer-assisted neurosurgery].

OBJECTIVE: In 1988, the neurosurgeons and neuroradiologists at the Val-de-Grâce hospital decided to create a stereotaxis site using advanced medical imaging date (CT-scan or MRI). METHODS: Two MRI machines and on CT unit were linked to a network (ETHERNET) available for radiologists in 1989. Neurosurgeons adapted stereotaxis sites using Leksell, Fisher and CRW software for MRI. A data processing program recognizing these sites was developed for stereotaxic biopsies based on MRI data. The network was extended in 1992 to the radiotherapy unit for multiple beam stereotaxic irradiations. Finally from 1994, when a computer-guided microscope (Zeiss MKM) was installed, nearly all neurosurgical procedures were conducted under stereotaxic conditions. RESULTS: Since 1989, approximately 900 computer-guided stereotaxic biopsies have been performed with precision in the millimeter range. Since 1994, the Zeiss MKM microscope has been used for 120 computer-guided procedures with the frameless stereotaxic technique guided from landmarks on the outer cranium or attached to the scalp. Mean precision obtained with landmarks was 1.2 mm and 2.8 mm with scalp markers. CONCLUSION: These techniques of computer-assisted neurosurgery based on advanced medical imaging techniques has been revolutionary for surgical approach to intracranial and intracerebral diseases. Smaller assess routes and precise pathways allow an approach to formerly inoperable lesions with minimal risk.

Biopsy↗
PubMed1996

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.

mRNA transcripts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene were analyzed from lymphocytes of two cystic fibrosis compound heterozygotes (394delTT/3195del6 and 1215delG/ 2423delG), of five related carriers heterozygous for one of these mutations, and of five normal individuals. After reverse transcription of total RNA and amplification by the polymerase chain reaction, fragments were investigated by sequencing and by the protein truncation test (PTT). The three frameshift mutants were correctly detected by PTT, as they introduced a premature termination codon resulting in shortened protein products. The PTT approach thus provides a simple and reliable alternative method for detecting frameshift, nonsense, or splice site mutations, and for ascertaining their putative effect on the reading frame of the mRNA. In addition, we have identified 6 alternatively spliced forms of CFTR mRNA, two of which (transcripts lacking 4 + 5 or 17B) have not been described previously.

Adolescent↗
PubMed1996

CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.

In order to contribute to a better understanding of the dispersion of cystic fibrosis (CF) mutations in the South of France, seven diallelic and three multiallelic markers [three upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (XV-2c, KM 19 and J44) and seven intragenic polymorphism (IVS6A, IVS8CA, M470V, T854T, IVS17BTA, IVS17BCA and TUB18)] were analyzed for 143 delta F508 chromosomes, 100 CF chromosomes carrying 85 non-delta F508 and 15 unknown mutations, and 198 normal CFTR alleles. The study provides haplotypic data for 39 different CF mutations, which should be useful in diagnosis by haplotypic analysis and detection of the associated mutations. A major haplotype [2-1-2-7-16-2-1-(30/31)-13-1] was found in normal chromosomes, which should be the most ancient in the Caucasoid population. The most frequent haplotypes in normal chromosomes were associated with 16 different non-delta F508 mutations, suggesting that there was no preferential haplotype on which these mutations arose. Several mutations were each associated with more than one haplotype, as the result of slippage at one or two of the three microsatellites (delta F508, G542X, N1303K, G85E, E585X, K710X and 2184delA) or recombination (1717-1G-->A, R334W, L206W, R1162X and Y122X). Haplotypes for the most common CFTR mutations (delta F508, G542X, N1303K) revealed that a large number of alleles were generated by slippage at the microsatellite loci, suggesting that they are the most ancient CF mutations. Other mutations were associated with haplotypes that were different either at several diallelic sites (R334W) or at both diallelic and microsatellite markers (R1162X and R1158X), which is more suggestive of recurrence. Twenty recombinations were detected among the CF mutant alleles analyzed, 75% of them occurring in the second half of the CFTR gene. The higher mutational heterogeneity and the haplotypic variability reported in this small population from the Mediterranean area are consistent with an earlier appearance of CFTR mutations in southern Europe than in central and northern Europe, and an earlier origin and expansion of this population.

Cystic Fibrosis↗