Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

INTRODUCTION: This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). METHODS: Clinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed. RESULTS: The clinical presentations in patients with GM1-gangliosidosis are consistent with a phenotypic continuum ranging from a severe antenatal form with hydrops fetalis to an adult form with an extrapyramidal syndrome. Molecular studies evidenced 47 variants located throughout the sequence of the GLB1 gene, in all exons except 7, 11 and 12. Eighteen novel variants (15 substitutions and 3 deletions) were identified. Several variants were linked specifically to early-onset GM1-gangliosidosis, late-onset GM1-gangliosidosis or MPSIVB phenotypes. This integrative molecular and clinical stratification suggests a variant-driven patient assignment to a given clinical and severity group. CONCLUSION: This study reports one of the largest series of b-GAL deficiency with an integrative patient stratification combining molecular and clinical features. This work contributes to expand the community knowledge regarding the molecular and clinical landscapes of b-GAL deficiency for a better patient management

A Semantically Enriched Architecture for an Italian Laboratory Terminology System

This paper presents the architectural solutions and the first implementation results of a terminology service that aims to support Italian health institutions in the deployment of their clinical data in a semantically standardized format while main-taining their internal coding habits unchanged. As a first ex-ample of this general idea, an implementation structure of a translation system in LOINC for laboratory tests is presented. The first prototype of this system is at a testing stage within some clinical institutions of the Ligurian region. In this paper, the workflow of collaboration between the staff of a medical informatics academic laboratory and some hospital analysis laboratories is presented. With this system more than 400 rec-ords relative to clinical tests were coded with the appropriate LOINC code and these translations were inserted into a Com-mon Terminology Services 2 (CTS2) based tool to support fu-ture cooperative maintenance of the coding system. A compari-son with similar implementations in other English and non-English speaking countries is present. The authors thinks that the present example could be easily adopted both at a regional and at a national level in order to form an interconnected la-boratory network towards real semantic interoperabilit

Reliability of Longitudinal Brain Volume Loss Measurements between 2 Sites in Patients with Multiple Sclerosis: Comparison of 7 Quantification Techniques

International audienceBrain volume loss is currently a MR imaging marker of neurodegeneration in MS. Available quantification algorithms perform either direct (segmentation-based techniques) or indirect (registration-based techniques) measurements. Because there is no reference standard technique, the assessment of their accuracy and reliability remains a difficult goal. Therefore, the purpose of this work was to assess the robustness of 7 different postprocessing algorithms applied to images acquired from different MR imaging systems

History of multiple sclerosis in 2 successive pregnancies: A French and Italian cohort

Objective: To evaluate the risk of relapses during pregnancy and in the first 3 months after delivery in 2 successive pregnancies in a cohort of French and Italian women with multiple sclerosis (MS). Methods: A total of 93 women were included if they had had 2 pregnancies followed prospectively after MS onset between January 1993 and 2013. The association of a relapse during pregnancy or the first postpartum trimester in pregnancy 1 and pregnancy 2 was evaluated by univariate logistic regression. Results: A majority of women did not experience any exacerbation in the 3 months after delivery (31.2% and 23.7%, respectively, relapsed after pregnancy 1 and 2; p 0.32). A total of 7.6% had a relapse after both pregnancies. The risk of relapse after pregnancy 2 was not associated with the number of relapses in the prepregnancy year (odds ratio [OR] 1.52 [0.57-4.05]) or during pregnancy (OR 1.57 [0.52-4.79]) or with the occurrence of a relapse after pregnancy 1 (OR 0.86 [0.29-2.50]). Conclusions: Our work provides original data on the evolution of successive pregnancies in MS, showing a similar (and even lower) disease activity in the second pregnancy. There was no correlation of activity in successive pregnancies. Therefore, counseling of women with MS who consider having a second baby should be the same as for the first one

Diferencia(s) : revista de teoría social contemporánea (Año 1 no. 1 nov 2015)

DIFERENCIA(S) es una Revista de Teoría Social Contemporánea que nace como iniciativa del Grupo de Estudios sobre Estructuralismo y posestructuralismo del Instituto de Investigaciones Gino Germani de la Facultad de Ciencias Sociales de la Universidad de Buenos Aires. Se propone como un foro abierto y plural dedicado a la publicación de trabajos de investigación situados en el espacio de la teoría social. Espacio entendido como el campo dinámico y multiforme que se crea cuando distintas formas de pensamiento se encuentran ante la pregunta por los conjuntos sociales, sus modos de producción, reproducción y transformación. Ello implica afirmar que no sólo la filosofía y las ciencias humanas son capaces de un saber sobre lo social. La arquitectura, las artes plásticas, la música, la literatura y el cine, pero también las ciencias exactas y naturales, tienen mucho que decirnos al respecto