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Background: Fatty acid oxidation disorders constitute a group of heterogeneous diseases affecting either the transport or the oxidation of fatty acids. They are autosomal recessive genetic disorders, which arise during prolonged fasting, intercurrent infections or intense physical activities. The seizures are characterized by disturbances of consciousness, hypoglycemic coma, hepatomegaly, cardiomegaly-involving troubles of the rhythm and rhabdomyolyses. Aim: This thesis is a retrospective and multicentric study of patients suffering from fatty acid oxidation disorders in Wallonia and in Brussels. We hope that the description of this population will contribute to the documentation of these inherited metabolic diseases to guarantee efficient neonatal screening, optimal care and adequate treatment. Results: This study describes 54 cases of patients suffering from fatty acid oxidation disorders. The enzymatic deficiencies identified include MCAD deficiency (75, 9 %), VLCAD deficiency (11, 1%), LCHAD deficiency (3, 70 %), TFP deficiency (1, 85 %) and CPT II deficiency (7, 41%). The male /female ratio is of 1, 35/1. 35 patients were diagnosed following neonatal screening (64, 8%). 16 patients were diagnosed following clinical presentation (29, 6 %) and three patients were diagnosed differently (5, 55%). Conclusion: Fatty acid oxidation disorders are inherited metabolic diseases whose prognostic has significantly improved following their inclusions in the neonatal screening program in Wallonia and Brussels. However, additional investigations are necessary in order to improve the neonatal screening and to improve the preventive and therapeutic care of the patients. The aim is to limit the complications resulting from those diseases and to improve the quality of life of the patients. Introduction : les troubles de la β-oxydation mitochondriale représentent un groupe de maladies hétérogènes atteignant le transport ou la β-oxydation mitochondriale des acides gras. Il s’agit de maladies génétiques à transmission autosomique récessive, se manifestant lors de jeûnes prolongés, d’infections intercurrentes ou d’exercices physiques intenses. Les crises sont caractérisées par des troubles de la conscience, un coma hypoglycémique, une hépatomégalie une cardiomégalie avec des troubles du rythme cardiaque et des rhabdomyolyses. Objectif : ce mémoire est une étude rétrospective et multicentrique de patients atteints de troubles de la β-oxydation mitochondriale en Wallonie et à Bruxelles. Nous espérons que la description de cette population contribuera à la documentation de ces maladies métaboliques rares afin de pouvoir garantir un dépistage néonatal efficace, une prise en charge optimale et un traitement adapté. Résultats : 54 patients atteints de troubles de la β-oxydation mitochondriale des acides gras à moyennes et longues chaînes ont été inclus dans l’étude. Les déficits enzymatiques mis en évidence étaient : le déficit en MCAD (75, 9%), le déficit en VLCAD (11,1%), le déficit en LCHAD (3,70 %), le déficit en TFP (1, 85%), et le déficit en CPT II (7,41%). Le sexe ratio homme/femme était de 1,35/1. 35 patients (64,8 %) ont été diagnostiqués suite au dépistage néonatal, 16 patients (29, 6%) ont été diagnostiqués suite à la présentation clinique de la maladie, 3 patients (5,55%) ont eu un diagnostic fortuit. Conclusion : Les troubles de la β-oxydation mitochondriale des acides gras sont des maladies métaboliques rares dont le pronostic s’est considérablement amélioré suite à leurs inclusions dans le programme de dépistage néonatal en Fédération Wallonie-Bruxelles. Des investigations supplémentaires sont néanmoins nécessaires afin d’améliorer ce dépistage néonatal et d’affiner la prise en charge préventive et thérapeutique des patients. Le but étant de limiter les complications découlant de ces maladies et d’améliorer la qualité de vie des patients.

Clonidine --- Neonatal Abstinence Syndrome

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Clonidine. --- Endogenous. --- Naloxone. --- Opiate. --- Self-mutilation. --- Selfmutilation.

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Antimalarials --- Chromatography, Liquid --- Chromatography, Gas --- Clonidine --- Ergotamine --- Narcotics --- analysis --- methods --- metabolism --- blood

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Biological markers --- Dexamethasone --- Apomorphine --- Sleep, rem --- Contingent negative variation --- Receptors, endogenous substances --- Depression --- Clonidine --- Diagnostic use --- Diagnosis --- Drug therapy

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This book covers the current trends in clinical deep brain stimulation (DBS) research. This collection of papers from experts in the field provides state of the art knowledge and future perspectives in clinical DBS research. A range of topics involved in DBS is presented, ranging from high resolution imaging, electrophysiology and personalized medicine, in a broad range of brain disorders.

deep brain stimulation --- Parkinson’s disease --- illness representations --- illness perceptions --- coping strategies --- microelectrode recordings --- subthalamic nucleus --- procedural sedation and analgesia --- clonidine --- dexmedetomidine --- remifentanil --- DBS --- tremor --- stimulation parameters --- DBS programming algorithm --- DBS side effects --- thalamic nucleus --- zona incerta --- closed loop --- sensing --- electrophysiology --- neurophysiology --- pain --- thermal grill --- imaging --- obsessive compulsive disorder --- cognitive behavioral therapy --- major depressive disorder --- treatment resistant depression --- neuropsychological subtypes --- personalized treatment approach --- treatment-resistant depression --- depression --- meta-analysis --- meta-regression --- subcallosal cingulate gyrus --- medial forebrain bundle --- inferior thalamic peduncle --- ventral capsule --- ventral striatum --- general anesthesia --- intraoperative computed tomography --- intraoperative magnetic resonance imaging --- local anesthesia --- microelectrode recording --- magnetic resonance imaging --- ultra-high field --- chronic pain --- lead externalization --- trial period --- stereoEEG --- subcallosal cingulate --- medial prefrontal cortex --- selection --- levodopa --- axial symptoms --- non motor symptoms --- genetics --- n/a --- Parkinson's disease