Valproic acid (VPA) is a broad-spectrum antiepileptic drug and is usually well-tolerated. Rare serious complications may occur in some patients, including haemorrhagic pancreatitis, bone marrow suppression, VPA-induced hepatotoxicity and VPA-induced encephalopathy. The typical signs of VPA-induced encephalopathy are impaired consciousness, sometimes marked EEG background slowing, increased seizure frequency, with or without hyperammonemia. There is still no proof of causative effect of VPA in patients with encephalopathy, but only of an association with an assumed causal relation. We report 19 patients with VPA-associated encephalopathy in Germany from the years 1994 to 2003, none of whom had been published previously.
Interstitial deletions of chromosome band 4q32 are rare. We report on a 22-year-old female patient with a de novo interstitial deletion of chromosome 4q32 and a balanced translocation t(2;5)(p21;q12.1). Clinical problems of the patient comprised mild to moderate mental retardation, psychosis, obesity, broad nasal root, sparse lateral eyebrows, thin upper lip, short philtrum, micrognathia, and strabismus. Analysis by whole genome array CGH using an Agilent 244K oligonucleotide array and subsequent FISH using BAC clones from the 4q32 region revealed an unexpectedly complex rearrangement comprising a deletion of approximately 10 Mb in 4q32.1q32.3 and the insertion of two small fragments of 0.8 and 0.11 Mb originating from the derivative chromosome 4q32 into derivative chromosome 5q. The breakpoints of the t(2;5) translocation were mapped by BAC-FISH; no genes were disrupted by these breakpoints. The deleted interval in 4q32 harbored more than 30 genes, and haploinsufficiency of one or several of these genes is likely to have caused the clinical problems of the patient. Candidate genes for cognitive defects are GRIA2, GLRB, NPY1R, and NPY5R. In conclusion, this patient increases our knowledge about the phenotypic consequences of interstitial 4q32 deletions. Reports of patients with overlapping deletions will be needed to elucidate the role of individual genes and to establish genotype-phenotype correlations.
Summary. Anatomical characteristics of the internal carotid arteries are detailed in 50 anatomical preparations of frontal, sagittal and transversal sections from subjects aged between 42 and 76 years. The results obtained are compared with those reported in the literature and the following points are emphasized:Dimensions of the vessels (for the right internal carotid artery, the external diameter in the region of the neck was found to be 5_+0.8 mm, the mean length 154.9__+ 13.8 ram. There was no significant difference between left and right arteries).The variations in its course, with tortuousities at fixed points appearing relatively early in life, and their importance to arterial pathologies.The principal relationships of the cervical portion (C1), the petrous portion (C2), with the different parts of the ear and the cavernous portion of the artery (C3) in particular, and with the pituitary. Les art~res carotides internesR~sum& Les caractdres des art6res carotides internes sont pr6cis6s sur 50 pr@arations anatomiques de sujets fig6s de 42 /t 76 ans et sur des coupes frontales, sagittales et transversales. Les donn6es recueillies sont confront6es aux observations rapport6es dans la littdrature en insistant sur: -la biom6trie des vaisseaux (pour l'art6re carotide interne droite, diam&re externe dans la r6gion cervicale moyenne: 5_+0.8 ram, longueur moyenne: 154,9_+ 13,8 ram, il n'existe pas de variation significative entre les art6res droites et gauches); -les variations de trajet avec sinuosit6s fix6es relativement pr6cocdment et leur importance dans la pathologie art6rielle ;Offprint requests to."
, J C1 Libersa 3 et P Dobbelaere 2Bien qu'il paraisse difficile d'apporter une contribution originale la connaissance des art~res carotides internes (arteria carotis interna) tant sont nombreux les travaux qu'elles ont suscit6s, nous voudrions insister sur quelques points, notamment : --la biom6tde des vaisseaux, ces mesures ayant 6t6 d'un grand secours dans la mise au point d'un cath6ter coaxial destin6 ~t l'injection hypers61ective du syst~me carotidien interne et de ses branches (Clarisse et coll 1977)
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