El peritaje médico en la práctica judicial

Desde la cátedra, la judicatura, el ejercicio profesional y el estudio del derecho penal, en todos los niveles del quehacer, el interés por los avances científicos en el campo de la criminalística y la criminología es creciente. Más allá de la natural inquietud teórica, existen una gran preocupación por que estos se apliquen en la cotidianeidad de las investigaciones judiciales como una eficaz ayuda para el descubrimiento de la verdad.From the professorship, the judiciary, professional practice and the study of criminal law, at all levels of work, interest in scientific advances in the field of criminalistics and criminology is growing. Beyond the natural theoretical concern, there is a great concern that these are applied in the daily life of judicial investigations as an effective aid for discovering the truth

Temas Socio-Jurídicos. Volumen 18 No. 39 Diciembre 2000

En la presente edición, la número 39 de la Revista Temas Socio-Jurídicos, colocamos a disposición de nuestros lectores los ensayos elaborados por los profesores y estudiantes de la Facultad de Derecho de la Universidad Autónoma de Bucaramanga, durante el segundo semestre del presente año 2000. La crisis institucional de la nación inquieta de especial manera a la comunidad académica que se expresa en propuestas, análisis o a veces con simples manifestaciones de perplejidad, que son las que se postulan por los distintos voceros de esta, nuestra escuela jurídica, que este medio escrito las acoge, recopila y divulga para incentivar el debate. Reiteramos la convocatoria a los profesores, estudiantes y egresados a vincularse con sus escritos al desarrollo y proyección de este instrumento de comunicación entre la academia y la comunidad, que sin reticencias ni reparos censurantes deja al criterio del lector el lacerante estímulo de la crítica, en procura de generar a través de la controversia dialéctica un ámbito propicio para el desarrollo intelectual de quienes despliegan el placer de escribir.In this edition, number 39 of the Socio-Legal Issues Magazine, we place at the disposal of our readers the essays prepared by the professors and students of the Faculty of Law of the Autonomous University of Bucaramanga, during the second semester of the current year 2000 The institutional crisis of the nation is particularly worrying way to the academic community that expresses itself in proposals, analyzes or sometimes with simple expressions of perplexity, which are the ones that are postulated by the different spokesmen of this, our legal school, that this written medium welcomes, compiles and disseminates to encourage the debate. We reiterate the call to professors, students and graduates to link with their writings to the development and projection of this instrument of communication between the academy and the community, which without reluctance or censorious objections leaves to the reader's discretion the lacerating stimulus of criticism, in seeks to generate through dialectical controversy a favorable environment for the intellectual development of those who display the pleasure of writing

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Microbiologia medica

Libro di Testo di Microbiologia Medica, per gli studenti del Corso di Laurea in Medicina e Chirurgia. Co-curatore dell'edizione italian

Clinical manifestations of intermediate allele carriers in Huntington disease

Objective: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. Methods: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. Results: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p 0.002). Conclusions: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. ClinicalTrials.gov identifier: NCT01590589