Les lombalgies chroniques : symptôme ou pas symptôme ?

Cet article étudie un aspect psychologique impliqué dans certaines affections somatiques, ici les lombalgies chroniques. Plusieurs cas de patients lombalgiques reçus en entretiens psychothérapiques montrent que le statut de la douleur évolue selon que le sujet lui accorde ou non une valeur de symptôme, au sens psychanalytique. Le « choix » de ce statut est personnel, subjectif, inconscient, et impacte l’évolution de la lombalgie. Après avoir défini le symptôme au sens médical et au sens psychanalytique, et avoir rappelé la distinction entre l’hystérie et la psychosomatique, les auteurs présentent leur conception des rapports corps et psyché selon le modèle de la bande de Möbius utilisée par Lacan pour définir les rapports entre le conscient et l’inconscient. Il est cependant illusoire, en médecine générale, de pouvoir amener tous les patients à faire de leur lombalgie un symptôme « psychanalytique ». Le contexte et le cadre ne sont pas les mêmes car le patient qui va consulter son médecin n’en attend pas la même chose que celui qui va consulter un psychologue, un psychanalyste ou un psychiatre. Néanmoins, l’ouverture des uns et des autres à la possibilité d’une évolution du patient fondée sur un changement de sa position subjective peut être un avantage important, car ce qui est en jeu dans le processus de la chronicisation n’est pas seulement la disparition pure et simple de la douleur, mais la modification préalable de sa fonction pour le sujet, c’est-à-dire le passage de la fonction première de la douleur comme signal de danger à celle qui favorise l’élaboration d’un sens subjectif. Et pour cela, faut-il encore que ce sujet, comme les praticiens concernés, lui reconnaissent cette seconde fonction

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: Clinical, genetic and neuroradiological features

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase (TP) gene causes mitochondrial genomic dysfunction. Patients suffer from gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoparesis, myopathy and polyneuropathy. Magnetic resonance imaging (MRI) shows leukoencephalopathy. We describe clinical, genetic and neuroradiological features of three brothers affected with MNGIE. Clinical examination, laboratory analyses, MRI and magnetic resonance spectroscopy (MRS) of the brain, and genetic analysis have been performed in all six members of the family with the three patients with MNGIE. Two of them are monozygous twins. They all suffered from gastrointestinal dysmotility, cachexia, ophthalmoplegia, muscular atrophies, and polyneuropathy. Urinary thymidine was elevated in the patients related to the severity of clinical disease, and urinary thymidine (normally not detectable) was also found in a heterozygous carrier. Brain MRI showed leukoencephalopathy in all patients; however, their cognitive functioning was normal. Brain MRS demonstrated reduced N-acetylaspartate and choline in severely affected areas. MRI of heterozygous carriers was normal. A new mutation (T92N) in the TP gene was identified. Urinary thymidine is for the first time reported to be detectable in a heterozygous carrier. MRS findings indicate loss of neurons, axons, and glial cells in patients with MNGIE, but not in heterozygous carrier

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without concomitant betaine supplementation. We systematically evaluated reports from 11 published and 4 unpublished patients with CBS deficiency and from additional four cases of encephalopathy in association with elevated methionine. We conclude that, while betaine supplementation does greatly exacerbate methionine accumulation, the primary agent causing brain edema is methionine rather than betain

Creatine and guanidinoacetate reference values in a French population

Creatine and guanidinoacetate are biomarkers of creatine metabolism. Their assays in body fluids may be used for detecting patients with primary creatine deficiency disorders (PCDD), a class of inherited diseases. Their laboratory values in blood and urine may vary with age, requiring that reference normal values are given within the age range. Despite the long known role of creatine for muscle physiology, muscle signs are not necessarily the major complaint expressed by PCDD patients. These disorders drastically affect brain function inducing, in patients, intellectual disability, autistic behavior and other neurological signs (delays in speech and language, epilepsy, ataxia, dystonia and choreoathetosis), being a common feature the drop in brain creatine content. For this reason, screening of PCDD patients has been repeatedly carried out in populations with neurological signs. This report is aimed at providing reference laboratory values and related age ranges found for a large scale population of patients with neurological signs (more than 6 thousand patients) previously serving as a background population for screening French patients with PCDD. These reference laboratory values and age ranges compare rather favorably with literature values for healthy populations. Some differences are also observed, and female participants are discriminated from male participants as regards to urine but not blood values including creatine on creatinine ratio and guanidinoacetate on creatinine ratio values. Such gender differences were previously observed in healthy populations; they might be explained by literature differential effects of testosterone and estrogen in adolescents and adults, and by estrogen effects in prepubertal age on SLC6A8 function. Finally, though they were acquired on a population with neurological signs, the present data might reasonably serve as reference laboratory values in any future medical study exploring abnormalities of creatine metabolism and transport

Integrating Benders decomposition within Constraint Programming

Benders decomposition [1] is a solving strategy based on the separation of the variables of the problem. It is often introduced as a basis for models and techniques using the complementary strengths of constraint programming and optimization techniques. Hybridization schemes have appeared recently and provide