[Deep inferior epigastric pedicle for microsurgical free flap transfer for contralateral thigh root coverage]. / Utilité du pédicule épigastrique inférieur profond pour le branchement microchirurgical de lambeau libre pour la couverture de la racine de la cuisse controlatéral.

Thigh loss cover after carcinologic resection of sarcomas can be complex and compromise the vascular tree of the lower limb. We report a case of a patient with recurrent sarcoma of the right thigh. After multiple resections, the femur and hip joint are exposed. The superficial and deep femoral vessels are taken in the excisional piece. The reconstruction is performed by a free musculocutaneous latissimus dorsi flap, anastomosed to the deep inferior controlateral epigastric vessels. The deep inferior epigastric vessels are of sufficient length to join the contralateral hemiabdomen after dissection with a gauge allowing microsurgical anastomoses. They can serve as recipient vessels for a flap covering the contralateral thigh.

[Shape and aesthetic outcome evaluation of transposed umbilicus according to four surgical procedures]. / Évaluation de la forme et du résultat esthétique d'ombilics transposés selon quatre techniques chirurgicales.

INTRODUCTION: In abdominal plastic surgery, umbilicus is frequently transposed, generating scars and shapes variating with the techniques used. Various umbilical transposition techniques have been described, all of them attempt to reproduce the "ideal" umbilicus. This study aimed to define the shape and the aesthetic results obtained with four different surgical procedures, in order to choose an "ideal" umbilical transposition technique. PATIENTS AND METHODS: This retrospective study analyzed the characteristics of transposed umbilicus, in 50 patients who had undergone abdominal dermolipectomy for aesthetic reason, after a loss of weight or in breast reconstruction by Deep-Inferior-Epigastric-Perforator. Four surgical procedures were chosen, which differed by their counter-incision shape in the abdominal flap (Y, inverted Y, de-epidermized round with horizontal incision or U), and the deep points position of umbilical docking (along a horizontal or vertical axis). Shape and depth were evaluated by a panel of experts. The global assessment was based on a double evaluation, by the surgical jury and the patients themselves. RESULTS: The counter-incision type determined the umbilicus shape: triangular for the Y (60%) or inverted-Y (41%), round for the U (52%) and vertical oval (67%) or round (32%) for the de-epidermized circle. The deep points position influenced the umbilicus axis. Regarding the appreciation, the de-epidermized circle had the best results for surgeons in a significant way, and for patients (respectively 72% and 100% satisfied), followed by the inverted-Y (57% and 92%) and Y techniques (55% and 89%) and at last the U (50 and 75%). CONCLUSION: Horizontal counter incision in a de-epidermized round, with two anchoring points on a vertical axis, generates vertical oval or round shaped umbilicus, considered attractive in the literature, and giving the highest aesthetic satisfaction for both surgeons and patients.

[Memory symptom exaggeration in a patient with progressive multiple sclerosis outside any medico-legal context]. / Exagération de symptômes mnésiques hors contexte médicolégal chez un patient atteint de sclérose en plaques.

INTRODUCTION: Memory symptom exaggeration or malingering in the forensic neuropsychological evaluation of well-documented brain pathology is seldom described. For some, documented neuropathology and malingering are considered to be mutually exclusive. CASE REPORT: We report an original clinical observation of an amnesic factitious disorder in a patient with progressive multiple sclerosis. This patient, who was seen for a routine comprehensive neuropsychological evaluation, demonstrated a severe memory encoding deficit in a classical standard episodic memory test. This amnesic syndrome was not in agreement with the neurological condition where deficits in retrieval memory processes are essentially observed. Moreover, his performance at two symptom validity tests fell below the admitted cut-off scores. In fact, the patient obtained an accuracy score of 3 (cut-score<10) in the Rey's 15-Items Test, a well known malingered amnesia measure. His performance in the 21-Items Test French adaptation was well below the proposed cut-off score of 15/21 and inferior to the results obtained by an Alzheimer patients group (n=30). A clinical approach of memory symptom exaggeration is described. We discuss the diagnosis of this false disorder. CONCLUSION: This case report demonstrates unequivocally that memory symptom exaggeration or malingering can and does occur in patients seen without litigious contexts and who have a well-documented neurological pathology. Failure to address malingering may compromise neuropsychological clinical findings. Nevertheless, there is a lack of up-to-date standard French-language documentation in this topic.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral arteriopathy characterized by the recurrence of subcortical infarcts leading to dementia. A genetic linkage analysis conducted in two large families recently allowed us to map the affected gene on chromosome 19 in a 12-cM interval bracketed by D19S221 and D19S215. In the present study, these first 2 families and 13 additional ones, including a total of 199 potentially informative meiosis, have been genotyped with eight polymorphic markers located between D19S221 and D19S215. All families were linked to chromosome 19. The highest combined lod score (Zmax = 37.24 at theta = .01) was obtained with marker D19S841, a new CAn microsatellite marker that we isolated from chromosome 19 cosmids. The recombinant events observed within these families were used to refine the genetic mapping of CADASIL within a 2-cM interval that is now bracketed by D19S226 and D19S199 on 19p13.1. These data strongly suggest the genetic homogeneity of this recently identified condition and establish the value of its clinical and neuroimaging diagnostic criteria. Besides their importance for the ongoing positional cloning of the CADASIL gene, these data help to refine the genetic mapping of CADASIL relative to familial hemiplegic migraine and hereditary paroxysmal cerebellar ataxia, conditions that we both mapped within the same chromosome 19 region.

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited arterial disease of the brain recently mapped to chromosome 19. We studied 148 subjects belonging to seven families by magnetic resonance imaging and genetic linkage analysis. 45 family members (23 males and 22 females) were clinically affected. Frequent signs were recurrent subcortical ischaemic events (84%), progressive or stepwise subcortical dementia with pseudobulbar palsy (31%), migraine with aura (22%), and mood disorders with severe depressive episodes (20%). All symptomatic subjects had prominent signal abnormalities on MRI with hyperintense lesions on T2-weighted images in the subcortical white-matter and basal ganglia which were also present in 19 asymptomatic subjects. The age at onset of symptoms was mean 45 (SD [10-6]) years, with attacks of migraine with aura occurring earlier in life (38.1 [8.03] years) than ischaemic events (49.3 [10.7] years). The mean age at death was 64.5 (10.6) years. On the basis of MRI data, the penetrance of the disease appears complete between 30 and 40 years of age. Genetic analysis showed strong linkage to the CADASIL locus for all seven families, suggesting genetic homogeneity. CADASIL is a hereditary cause of stroke, migraine with aura, mood disorders and dementia. The diagnosis should be considered not only in patients with recurrent small subcortical infarcts leading to dementia, but also in patients with transient ischaemic attacks, migraine with aura or severe mood disturbances, whenever MRI reveals prominent signal abnormalities in the subcortical white-matter and basal ganglia. Clinical and MRI investigations of family members are then crucial for the diagnosis which can be confirmed by genetic linkage analysis. The disease is probably largely undiagnosed.

Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant cerebral arteriopathy mapped to chromosome 19 and characterized mainly by recurrent subcortical ischemic strokes and extensive white-matter signal abnormalities (WMAs) on magnetic resonance imaging. Other clinical features include migraine attacks and progressive subcortical dementia. Herein, we describe several members of the same family who suffered migraine attacks, mostly with aura, associated with WMAs, segregating with an autosomal dominant pattern of inheritance. One individual had a progressive subcortical dementia with similar WMAs. Although ischemic stroke, one of the hallmarks of CADASIL, was not present in this family, we hypothesized that the present disorder resulted from an alteration of the CADASIL gene. Genetic linkage analysis, using four chromosome 19 markers spanning the CADASIL locus, supports this hypothesis.

[Familial hemiplegic migraine. Localization of a responsible gene on chromosome 19]. / Migraine hémiplégique familiale. Localisation d'un gène responsable sur le chromosome 19.

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. The aim of our study was the identification of the affected gene. The first step was the chromosomal mapping of the affected gene, for which we used a "candidate gene" strategy. The first candidate gene was the gene responsible for CADASIL. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lodsore > 8 was found with two markers that are strongly linked to CADASIL. Multilocus linkage analysis located the affected gene within an interval of about 30 cM on chromosome 19, containing the gene responsible for CADASIL. At this step it's not possible to conclude that CADASIL and familial hemiplegic migraine are due to the same mutated gene. It will be necessary to analyse other familial hemiplegic migraine and CADASIL families in order to reduce the size of their respective interval and ultimately identify the mutated gene(s).

A gene for familial hemiplegic migraine maps to chromosome 19.

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lod score > 8 was found with two markers that are also strongly linked to CADASIL. Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19.

[The heterozygote beta-thalassemic patient with regard to radiological hazards]. / Il beta-talassemico eterozigote di fronte al rischio radiologico.

Since anaemia of varying degree is a quite common finding in heterozygous beta-thalassaemia, a research was done to see if beta-thalassaemia heterozygotes occupationally exposed to long-term continuous external radiation should be more susceptible to haematopoietic damage than non thalassaemic subjects. We examined peripheral haematological findings of 20 beta-thalassaemia heterozygotes previously exposed to a mean of 10.7 mSv, compared with 22 non thalassaemic subjects exposed to 6 mSv, and with 50 not exposed beta-thalassaemia heterozygotes. The obtained results suggest that whole-body external irradiation--with the mean doses reported--does not cause noteworthy changes in beta-thalassaemia heterozygotes.