ANEVRISMES GEANTS DE L’ARTERE HYPOGASTRIQUE : DIFFICULTES DE PRISE EN CHARGE THERAPEUTIQUE

The isolated aneurysms of internal iliac artery are rare and present several difficulties of care. Their treatment is often difficult and contains relatively high rates of morbidity and mortality. The giant character complicates the methods of assessment and surgical dissection due in the complexity of the anatomical region and the modifications of marks engendered by the aneurismal mass. Bringing back us to two observations of giants’ aneurisms of the internal iliac artery discovered incidentally on an atypical symptomatology. Both patients were surgically handled with a good evolution. We evoke the variety of the aetiologies of these aneurysms and we discuss the difficulties of their surgical treatment.Les anévrismes isolés de l’artère iliaque interne sont rares et présentent plusieurs difficultés de prise en charge. Leur traitement est souvent difficile et comportent des taux de morbidité et de mortalité relativement élevés. Leur caractère géant complique les modalités de contrôle et de dissection chirurgicale du à la complexité de la région anatomique et les modifications des repères engendrées par la masse anévrismale. Nous rapportons deux observations d’anévrismes géants de l’artère iliaque interne découverts fortuitement sur une symptomatologie atypique. Les deux malades ont été traités chirurgicalement avec une bonne évolution. Nous évoquons la diversité des étiologies de ces anévrismes et nous discutons les difficultés de leur traitement chirurgical

ANEVRISME ROMPU DE L’ARTERE GASTRODUODENALE : HEMOSTASE PAR EMBOLISATION

Aneurysms of the gastroduodenal artery are rare vascular lesions with significantly higher risk of rupture, given the predominance of inflammatory causes. Rupture is frequently the initial symptom, and intraoperative isolation and control of the aneurysm can be difficult, it worsens the prognosis and increases mortality. The endovascular approach with embolization of the aneurysm offers in these cases the possibility of a primary hemostasis and allows secondly evacuation of the hemoperitoine on a stable and a well-prepared patient.We report a 72 year-old women, having benefited of an urgent haemostasis by embolisation of a ruptured gastroduodenal artery aneurysm and a secondary evacuation of her hemopéritoine 48 hours later. It was an embolization in a ruptured digestive artery aneurysm with an anatomic variant, the hepatic artery was arising from the superior mesenteric artery, and it makes all the particularity of this observation. In this paper we recall the diagnostical and etiological aspects of gastroduodenal artery aneurysms, we discuss the difficulties of their treatment and we emphasis the advantages of embolization in management of this type of complication.Les anévrismes de l'artère gastroduodénale sont des lésions vasculaires rares, la rupture en est un risque réel, il est significativement augmenté par la nature inflammatoire dominante de leurs étiologies. La rupture est un mode de révélation fréquent et souvent inaugurale, elle rend le contrôle chirurgical de l’artère gastroduodénale difficile, aggravant ainsi le pronostic et augmentant le taux de mortalité. L’approche endovasculaire par embolisation offre la possibilité d’une hémostase primaire en urgence et permet de reporter l’évacuation de l’hemopéritoine dans un deuxième temps sur un malade stable et bien préparé.Nous rapportons l'observation d'une femme de 72 ans, ayant bénéficiée d’une hémostase par embolisation d’un anévrisme rompu de l‘artère gastroduodénale en urgence et d’une évacuation secondaire de son hemopéritoine 48 heures après. Cette observation rapporte le cas d’une embolisation sur un anévrisme rompu d’une artère digestive avec une variante anatomique réalisée par l’artère hépatique qui nait de l’artère mésentérique supérieure, cela fait toute la particularité de cette observation. Dans ce travail nous rappelons les aspects diagnostic et étiologiques des anévrismes de l’artère gastroduodénale, nous discutons les difficultés de leur prise en charge en cas de rupture et nous mettant le point sur les avantages de l’embolisation primaire à visée hémostatique

SYNDROME DE L’ARTERE POPLITEE PIEGEE : UNE CAUSE RARE DE CLAUDICATION INTERMITTENTE DU SUJET JEUNE

The syndrome of the trapped pop1ity artery appears in the young adult like a limping of the calf and or foot. Anatomical anomalies relating to insertions of the internai Twin muscle primarily. The diagnosis is suspect on Doppler echography, showing positional compression, change of direction of the poplitée artery, or only the existence of an abnormal fascicule of muscle fibres between artery and poplity vein. Angio IRM can replace the conventional assessment arteriographic. The treatment of extrinsic compression must avoid the constitution of parietal lesions and thromboses if they are installed, the suppression of the anatomical anomaly must be associated a segmentary revascularisation in autogenous venous material. Our patient is a young patient who consulted for an intermittent limping of effort of the right calf. The peripheral pulses were present, just as arterial the Doppler echo and the angio scanner of the hollow poplity showed the insertion of a beam of the internal  twin between the artery and the vein poplity. The arterial échodoppler and the IRM are according to certain authors the only essential examinations with the positive and differential diagnosis of the syndrome of the trapped pop1ity artery and will make it possible to eliminate from other differential diagnoses: pop1ity athéromating and the early athérome, disease of Burger or thromboangéite obliterating, the aneurisms poplities and the cysts adventitiels of the poplity artery. The treatment is always surgical and must be early. It includes/understands the lifting of the trap associated with the need with an arterial gesture of revascularisation. For the authors, the permeability to short and long-term was better for the patients among whom one practised a section of the musculo-tendineux beam being wrong compared to the patient which profited from a gesture of  vascular restoration.Le syndrome de l’artère poplitée piégée se manifeste chez l’adulte jeune comme une claudication du mollet et ou du pied. Les anomalies anatomiques concernant essentiellement les insertions du muscle Jumeau interne. Le diagnostic est suspecté sur l’échographie doppler, montrant la compression positionnelle, le changement de direction de l’artère poplitée, ou seulement l’existence d’un faisceau musculaire anormal entre artère et veine poplitée. L’angio IRM peut remplacer le bilan artériographique conventionnel. Le traitement de la compression extrinsèque doit éviter la constitution de lésions pariétales et de thromboses si elles sont installées, la suppression de l’anomalie anatomique doit être associée à une revascularisation segmentaire en matériel veineux autogène. Notre patient est un malade jeune qui a consulté pour une claudication intermittente d’effort du mollet droit. Les pouls périphérique étaient présents, de même que l’écho doppler artériel et l’angio scanner du creux poplité montraient l’insertion d’un faisceau du jumeau interne entre l’artère et la veine poplité. L’échodoppler artériel et l’IRM sont selon certains auteurs les seuls examens indispensables au diagnostic positif et différentiel du syndrome de l’artère poplitée piégée et vont permettre d’éliminer d’autres diagnostics différentiels : poplitée athéromateuse et l’athérome précoce, maladie de Buerger ou thromboangéite oblitérante, les anévrysmes poplités et les kystes adventitiels de l’artère poplitée. . Le traitement est toujours chirurgical et doit être précoce. Il comprend la levée du piège associé au besoin à un geste de revascularisation artériel. Pour les auteurs, la perméabilité a court et à long terme était meilleure pour les malades chez qui on a pratiqué une section du faisceau musculo-tendineux aberrant par rapport au patient qui ont bénéficié d’un geste de restauration vasculaire

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associated with homozygous frameshift mutations in FAT1. We show that Fat1 knockout mice and zebrafish embryos homozygous for truncating fat1a mutations exhibit completely penetrant coloboma, recapitulating the most consistent developmental defect observed in affected individuals. In human retinal pigment epithelium (RPE) cells, the primary site for the fusion of optic fissure margins, FAT1 is localized at earliest cell-cell junctions, consistent with a role in facilitating optic fissure fusion during vertebrate eye development. Our findings establish FAT1 as a gene with pleiotropic effects in human, in that frameshift mutations cause a severe multi-system disorder whereas recessive missense mutations had been previously associated with isolated glomerulotubular nephropathy

Enhancing Supply Chain Agility by Deploying Competence Management and the Supply Chain Operations Model

Currently, business environment is characterized by pressure caused by stiff competition, constant changes (e.g., product/ technological innovations, decreasing product lifecycles, and product proliferation), and a high level of market uncertainty band unpredictability. The agility of the Supply Chain Management (SCM) is clearly identified as a key factor for success and a strategic essential lever. This paper explores the impact of deploying competence management and Supply Chain Operations Reference (SCOR) model on firm performance. Our approach is based on a systemic view by considering the SCOR reference model as the heart of competence management system

A Rare Case of Adult Medulloblastoma with Spinal Metastasis

Medulloblastoma is a relatively common malignant brain tumor of childhood and relatively rare in adulthood, with a propensity for neuraxial spread via cerebrospinal fluid pathways. Osseous extraneural metastasis is uncommon and when it happens, radiologic findings are of sclerotic (60%), lytic (35%), and mixed patterns (5%) (Algra et al. (1992)). In this paper, we present a case of medulloblastoma metastiaszing to the lumbar spine and describe the magnetic resonance appearance, with emphasis on the image findings mimicking spondylodiscitis