Metrizamide computed tomographic cisternography was used to examine 27 patients (19 males and eight females, 14–59 years old) clinically suspected of having cerebrospinal fluid fistulae with ...rhinorrhea. Twenty-one fistulae were traumatic and six were spontaneous. Five to 6 ml of metrizamide (or lopamidol, two cases) were injected by lumbar puncture at a concentration of 185–200 mg I/ml for direct coronal and axial computed tomographic sections of the skull base. Cerebrospinal fluid rhinorrhea was present at the time of examination in 12 of 27 cases. Results were evaluated according to three criteria: (1) metrizamide passage through the bony and dural defect; (2) demonstrable site of the fracture and/or bony defect; and (3) metrizamide visualized within a paranasal sinus, nasal cavity, or cotton pledget. The examination was considered positive when criterion 1 alone was present and when 2 and 3 were associated. In 15 of 27 cases, cisternography was positive, with the exact site of cerebrospinal fluid leakage demonstrated in 10 patients. In six cases, the results were not definitive; only one of the criteria (2 or 3) was fulfilled. In six cases, cisternography was normal. Seventeen patients underwent surgery. The site of cerebrospinal fistulae was ethmoidal in nine cases, frontoethmoidal in seven, sphenoidal in two, and sphenoethmoidal in one. The relative value of metrizamide computed tomographic cisternography compared with other diagnostic studies, polytomography, positive or negative contrast studies, and radionuclides, is discussed. Diagnostic pitfalls include artifacts and partial volume effect.
Transsphenoidal encephaloceles are rare congenital malformations that are classified among the medial dysraphias and that are therefore associated with an agenesis of the corpus callosum. Clinically, ...the diagnosis is difficult, but hypertelorism and weakening eyesight should be of suggestive value. Diagnosis is basically radiological. In the past, it was founded on roentgenography, tomography of the base of the skull, pneumoencephalography, and angiography when necessary. Today, metrizamide computed cisternography using axial transverse and coronal sections, supplemented by sagittal reconstructions, allows for a complete examination of bony, meningeal, and cerebral abnormalities.
Five cases of histologically confirmed olfactory neuroblastoma (esthesioneuroblastomas) have been studied by computed tomography (CT). Both the clinical symptoms (in particular, unilateral nasal ...obstruction and recurring epistaxis) and radiological findings (opacity of the paranasal sinuses) are nonspecific. Computed tomography shows a contrast enhancing mass-lesion and is more useful than conventional tomography in estimating its extension and the associated bone destruction, secondary reaction of sinusitis, and tumoral calcification. In the two cases in which the tumor was associated with exophthalmos, CT demonstrated that the muscular cone acts as a barrier preventing tumoral invasion. In cases wtih intracranial involvement, it appears that the attenuation values can be useful for differentiating between invasion by contiguity (two cases) versus metastasis (one case). Computed tomography is valuable in the follow-up and during and after radiotherapy of the tumor.
We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature ...termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.
Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, ...and cardiovascular findings. We studied a cohort of 19 families with PXE, and identified 16 different mutations, nine of which were novel variants. The mutation detection rate was about 77%. We found that arginine codon 518 was, with the previously described R1141X and EX23_29del, a recurrently mutated amino acid (11.5% of the mutations detected for each variant R518Q and R518X). No clear delineation of genotype/phenotype correlation was identified, and marked intra-familial variability of the disease was seen in one family. One family with pseudodominant inheritance displayed three distinct ABCC6 mutations, providing further evidence for the probable exclusive recessive transmission of PXE. These data contribute to the expanding database of ABCC6 mutations, to the description of phenotypic variability, and inheritance in PXE, and should be helpful for genetic counselling.
Netherton syndrome (NS MIM
256500) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic ...manifestations. Infants with this syndrome often fail to thrive; life-threatening complications result in high postnatal mortality. We report the assignment of the NS gene to chromosome 5q32, by linkage analysis and homozygosity mapping in 20 families affected with NS. Significant evidence for linkage (maximum multipoint LOD score 10.11) between markers D5S2017 and D5S413 was obtained, with no evidence for locus heterogeneity. Analysis of critical recombinants mapped the NS locus between markers D5S463 and D5S2013, within an <3.5-cM genetic interval. The NS locus is telomeric to the cytokine gene cluster in 5q31. The five known genes encoding casein kinase Iα, the α subunit of retinal rod cGMP phosphodiesterase, the regulator of mitotic-spindle assembly, adrenergic receptor β2, and the diastrophic dysplasia sulfate–transporter gene, as well as the 38 expressed-sequence tags mapped within the critical region, are not obvious candidates. Our study is the first step toward the positional cloning of the NS gene. This finding promises a better understanding of the molecular mechanisms that control epidermal differentiation and immunity.
Bazex-Dupré-Christol syndrome is an inherited condition with skin cancer predisposition characterized by follicular atrophoderma, hypotrichosis, and early onset of multiple basal cell carcinomas. ...Previous reports suggested an X-linked mode of inheritance. We therefore performed linkage analysis with microsatellite markers of the X chromosome in three families. We obtained evidence for X-linkage and regional assignment to Xq24-q27 of this syndrome (maximal lod score = 5.26 with a recombination fraction of 0% at the DXSl192 locus). This represents a first step towards the identification of a gene involved in hair follicle development and skin tumor formation.
La négociation semble bien être devenue le modèle dominant de régulation des rapports sociaux. Le phénomène juridique n'est pas épargné : pas une de ses branches qui ne témoigne de l'irrésistible ...ascension du droit négocié. On négocie la loi, tant en amont qu'en aval de son adoption : on négocie le règlement des conflits tant au tribunal qu'en dehors des prétoires. S'il convient donc de prendre l'exacte mesure du phénomène et des transformations qu'il imprime dans l'ordre juridique tout entier, faut-il pour autant céder au mythe du « tout conventionnel » ? Adoptant une méthode critique et interdisciplinaire, le présent ouvrage multiplie les raisons de résister à cette dérive. Au plan sociologique, il souligne la permanence des rapports de force derrière les figures de l'accord et du compromis ; au plan éthique, il rappelle l'impossibilité de nouer le lien social à partir d'un point de vue exclusivement solipsiste ; au plan juridique, il montre combien règle et accord se déterminent réciproquement. De sorte qu'en définitive, c'est un nouvel objet de recherche qui s'est fait valoir – et qui donne son titre à l'ouvrage : l'entrelacement dialectique du droit négocié et du droit imposé. Par ailleurs, la négociation elle-même apparaît dédoublée, oscillant sans cesse entre un pôle idéal (la « délibération ») marqué par la bonne foi et la rationalité procédurale, et un pôle cynique (le « marchandage ») caractérisé par la défiance et le calcul d'intérêt. C'est au carrefour de cette double dialectique de l'autonomie et de l'hétéronomie, de la délibération et du marchandage que ce livre place le droit négocié, éclairé ici par la théorie du droit, les sciences sociales et la doctrine juridique.
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