Differentiating Abnormal, Normal, and Ideal Personality Profiles in Multidimensional Spaces

Current dimensional taxonomies of personality disorder (PD) establish that intense traits do not suffice to diagnose a disorder, and additional constructs reflecting dysfunction are required. However, traits appear able to predict maladaptation by themselves, which might avoid duplications and simplify diagnosis. On the other hand, if trait-based diagnoses are feasible, it is the whole personality profile that should be considered, rather than individual traits. This takes us into multidimensional spaces, which have their own particular - but poorly understood - logic. The present study examines how profile-level differences between normal and disordered subjects can be used for diagnosis. The Dimensional Assessment of Personality Pathology - Basic Questionnaire (DAPP-BQ) and the Personality Inventory for DSM-5 (PID-5) were administered to a community and a clinical sample each (total n = 1,925 and 3,543 respectively). Intense traits proved to be common in the general population, so empirically-based thresholds are indispensable not to take as abnormal what is at most unideal. Profile-level parameters such as Euclidean and Mahalanobis distances outperformed individual traits in predicting mental problems and equaled the performance of published measures of dysfunction or severity. Personality profiles can play a more central role in identifying disorders than is currently acknowledged, provided that adequate metrics are used

NeuPAT: an intranet database supporting translational research in neuroblastic tumors will be published in Computers in Biology and Medicine

Translational research in oncology is directed mainly towards establishing a better risk stratification and searching for appropriate therapeutic targets. This research generates a tremendous amount of complex clinical and biological data needing speedy and effective management. The authors describe the design, implementation and early experiences of a computer-aided system for the integration and management of data for neuroblastoma patients. NeuPAT facilitates clinical and translational research, minimizes the workload in consolidating the information, reduces errors and increases correlation of data through extensive coding. This design can also be applied to other tumor types.This work was supported by RD06/0020/0102 and PI10/0015 (ISCIII & ERDF); 396/2009 (FAECC).We are grateful to Mr.D. Harrison for assistance with English language editing.Villamon Ribate, E.; Piqueras, M.; Meseguer Anastasio, JE.; Blanquer Espert, I.; Berbegall Beltrán, AP.; Tadeo Cervera, I.; Hernández García, V.... (2013). NeuPAT: an intranet database supporting translational research in neuroblastic tumors will be published in Computers in Biology and Medicine. Computers in Biology and Medicine. 43(3):219-228. doi:10.1016/j.compbiomed.2012.11.011S21922843

A multilocus technique for risk evaluation of patients with neuroblastoma

Purpose: Precise and comprehensive analysis of neuroblastoma genetics is essential for accurate risk evaluation and only pangenomic/multilocus approaches fulfill the present-day requirements. We present the establishment and validation of the PCR-based multiplex ligation-dependent probe amplification (MLPA) technique for neuroblastoma. Experimental Design: A neuroblastoma-specific MLPA kit was designed by the SIOP Europe Neuroblastoma Biology Committee in cooperation with MRC-Holland. The contained target sequences cover 19 chromosomal arms and reference loci. Validation was performed by single locus and pangenomic techniques (n = 174). Dilution experiments for determination of minimal tumor cell percentage were performed and testing of reproducibility was checked by interlaboratory testing (n = 15). Further 156 neuroblastomas were used for establishing the amplification cutoff level. Results: The MLPA technique was tested in 310 neuroblastomas and 8 neuroblastoma cell lines (including validation and amplification cutoff level testing). Intertechnique validation showed a high concordance rate (99.5%). Interlaboratory MLPA testing (kappa = 0.95, P < 0.01) revealed 7 discrepant of 1,490 results (0.5%). Validation by pangenomic techniques showed a single discordance of 190 consensus results (0.5%). The test results led to formulation of interpretation standards and to a kit revision. The minimal tumor cell percentage was fixed at 60%. Conclusions: The recently designed neuroblastoma-specific MLPA kit covers all chromosomal regions demanded by the International Neuroblastoma Risk Group for therapy stratification and includes all hitherto described genetic loci of prognostic interest for future studies and can be modified or extended at any time. Moreover, the technique is cost effective, reliable, and robust with a high interlaboratory and intertechnique concordance

Age Dependency of the Prognostic Impact of Tumor Genomics in Localized Resectable MYCN-Nonamplified Neuroblastomas. Report From the SIOPEN Biology Group on the LNESG Trials and a COG Validation Group

Purpose: For localized, resectable neuroblastoma without MYCN amplification, surgery only is recommended even if incomplete. However, it is not known whether the genomic background of these tumors may influence outcome. Patients and methods: Diagnostic samples were obtained from 317 tumors, International Neuroblastoma Staging System stages 1/2A/2B, from 3 cohorts: Localized Neuroblastoma European Study Group I/II and Children's Oncology Group. Genomic data were analyzed using multi- and pangenomic techniques and fluorescence in-situ hybridization in 2 age groups (cutoff age, 18 months) and were quality controlled by the International Society of Pediatric Oncology European Neuroblastoma (SIOPEN) Biology Group. Results: Patients with stage 1 tumors had an excellent outcome (5-year event-free survival [EFS] ± standard deviation [SD], 95% ± 2%; 5-year overall survival [OS], 99% ± 1%). In contrast, patients with stage 2 tumors had a reduced EFS in both age groups (5-year EFS ± SD, 84% ± 3% in patients < 18 months of age and 75% ± 7% in patients ≥ 18 months of age). However, OS was significantly decreased only in the latter group (5-year OS ± SD in < 18months and ≥ 18months, 96% ± 2% and 81% ± 7%, respectively; P = .001). In < 18months, relapses occurred independent of segmental chromosome aberrations (SCAs); only 1p loss decreased EFS (5-year EFS ± SD in patients 1p loss and no 1p loss, 62% ± 13% and 87% ± 3%, respectively; P = .019) but not OS (5-year OS ± SD, 92% ± 8% and 97% ± 2%, respectively). In patients ≥ 18 months, only SCAs led to relapse and death, with 11q loss as the strongest marker (11q loss and no 11q loss: 5-year EFS ± SD, 48% ± 16% and 85% ± 7%, P = .033; 5-year OS ± SD, 46% ± 22% and 92% ± 6%, P = .038). Conclusion: Genomic aberrations of resectable non-MYCN-amplified stage 2 neuroblastomas have a distinct age-dependent prognostic impact. Chromosome 1p loss is a risk factor for relapse but not for diminished OS in patients 18months. In older patients with SCA, a randomized trial of postoperative chemotherapy compared with observation alone may be indicated.Funded in part by Oesterreichische National Bank (Grant No. 13422), Wissenschaftsfonds FWF (Grant No. I 2799-B28), and Directorate-General V, European Commission (Grant No. SOC 98 201284 05F02), all to P.F.A.; and Instituto de Salud Carlos III (Grant No. PI17/01558) to R.N.info:eu-repo/semantics/publishedVersio