Cervical myelopathy secondary to Hunter syndrome in an adult.

We present a case of type II mucopolysaccharidosis in which the diagnosis was delayed until the onset of cervical myelopathy in adulthood. Radiographic features were characteristic, with striking dural thickening shown on CT and MR imaging.     

Les artères carotides internes

Conclusion En raison de l'âge des sujets examinés, un certain nombre d'aspects pathologiques athéromateux et athéroscléreux ont été découverts (Fig. 17). D'autre part, les multiples sinuosités observées paraissent présentes précocement, l'allongement relatif ultérieur dû à la sénescence ne fait que les accentuer. Elles conditionnent cependant le type d'écoulement dans l'artère et favorisent les lésions pariétales, facteur important dans le processus complexe de l'athérosclérose. Il convient d'insister enfin sur un point particulier, la fragilité du siphon carotidien au-delà de 60 ans. Les modifications anatomiques observées augmentent les difficultés de progression et les risques du cathétérisme sélectif ainsi que de la chirurgie de ces vaisseaux.     

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study of Kabuki syndrome had two objectives. The first was to further describe the syndrome features. In order to do so, clinical geneticists were asked to submit cases-providing clinical photographs and completing a phenotype questionnaire for individuals in whom they felt the diagnosis of Kabuki syndrome was secure. All submitted cases were reviewed by four diagnosticians familiar with Kabuki syndrome. The diagnosis was agreed upon in 48 previously unpublished individuals. Our data on these 48 individuals show that Kabuki syndrome variably affects the development and function of many organ systems. The second objective of the study was to explore possible etiological clues found in our data and from review of the literature. We discuss advanced paternal age, cytogenetic abnormalities, and familial cases, and explore syndromes with potentially informative overlapping features. We find support for a genetic etiology, with a probable autosomal dominant mode of inheritance, and speculate that there is involvement of the interferon regulatory factor 6 (IRF6) gene pathway. Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined.     

Up-regulation of the error-prone DNA polymerase {kappa} promotes pleiotropic genetic alterations and tumorigenesis

It is currently widely accepted that genetic instability is key to cancer development. Many types of cancers arise as a consequence of a gradual accumulation of nucleotide aberrations, each mutation conferring growth and/or survival advantage. Genetic instability could also proceed in sudden bursts leading to a more drastic upheaval of structure and organization of the genome. Genetic instability, as an operative force, will produce genetic variants and the greater the instability, the larger the number of variants. We report here that the overexpression of human DNA polymerase kappa, an error-prone enzyme that is up-regulated in lung cancers, induces DNA breaks and stimulates DNA exchanges as well as aneuploidy. Probably as the result of so many perturbations, excess polymerase kappa favors the proliferation of competent tumor cells as observed in immunodeficient mice. These data suggest that altered regulation of DNA metabolism might be related to cancer-associated genetic changes and phenotype.     

Dual-energy contrast-enhanced digital mammography: initial clinical results

Objective

To assess the diagnostic accuracy of Dual-Energy Contrast-Enhanced Digital Mammography (CEDM) as an adjunct to mammography (MX) versus MX alone and versus mammography plus ultrasound (US).

Materials and methods

120 women with 142 suspect findings on MX and/or US underwent CEDM. A pair of low- and high-energy images was acquired using a modified full-field digital mammography system. Exposures were taken in MLO at 2 min and in CC at 4 min after the injection of 1.5 ml/kg of an iodinated contrast agent. One reader evaluated MX, US and CEDM images during 2 sessions 1 month apart. Sensitivity, specificity, and area under the ROC curve were estimated.

Results

The results from pathology and follow-up identified 62 benign and 80 malignant lesions. Areas under the ROC curves were significantly superior for MX+CEDM than it was for MX alone and for MX+US using BI-RADS. Sensitivity was higher for MX+CEDM than it was for MX (93% vs. 78%; p?<?0.001) with no loss in specificity. The lesion size was closer to the histological size for CEDM. All 23 multifocal lesions were correctly detected by MX+CEDM vs. 16 and 15 lesions by MX and US respectively.

Conclusion

Initial clinical results show that CEDM has better diagnostic accuracy than mammography alone and mammography+ultrasound.