The role of schizotypal traits and the OXTR gene in theory of mind in schizophrenia: A family-based study

Background. There is consistent evidence that theory of mind (ToM) is impaired in schizophrenia (SZ); however, it remains unclear whether such deficits are trait- or state-dependent. We evaluated ToM in patients with schizophrenia spectrum disorders (SSDs), their healthy first-degree relatives, and controls to test its suitability as an endophenotypic marker. We also studied the modifying effect of markers of clinical and genetic liability to SZ (schizotypy and genetic variability in the oxytocin receptor gene: OXTR) on ToM in healthy individuals. Methods. The sample included 38 stable SSD patients, 80 unaffected first-degree relatives, and 81 controls. ToM was assessed using the Hinting Task (HT) and schizotypy via the Schizotypal Personality Questionnaire-Brief (SPQ-B), which generates interpersonal (SPQ-IP), cognitive-perceptual (SPQ-CP), and disorganization (SPQ-D) scores. The polymorphism rs53576 of OXTR was genotyped. Results. Patients presented poorer HT performance than relatives and controls (p = 0.003 and p < 0.001). High SPQ-IP and SPQ-CP scores correlated with poorer ToM performance in relatives (p = 0.010 and p = 0.030), but not in controls. OXTR was not associated with HT scores, but it showed a modifying effect within controls; high SPQ-CP was related to HT poorer performance conditional to GG genotype (p = 0.007). Conclusions. ToM deficits were present in patients but not in unaffected relatives or controls. However, our data indicate the usefulness of clinical and genetic liability markers to characterize differences in ToM abilities within healthy individuals. Then, the observed link between ToM and SZ liability suggests the putative role of ToM as an endophenotypic marker. Nevertheless, new analyses in larger samples are needed

Triage of Women with Human Papillomavirus Self-Collection in Jujuy Province

INTRODUCCIÓN: Es reconocida la efectividad del test del virus del papiloma humano (VPH) para prevenir el cáncer cervicouterino (CC), así como su potencial para reducir barreras de acceso al tamizaje a través de su modalidad autotoma (ATVPH). Uno de los principales desafíos consiste en garantizar el acceso a la citología de triaje de las mujeres con AT-VPH positivas (VPH+). El objetivo de este estudio fue analizar la magnitud y los determinantes sociales de la adherencia al triaje (realización de citología posterior a un resultado de test de VPH+) en mujeres de 30 años o más con AT-VPH+ dentro del sistema público de salud de la provincia de Jujuy. MÉTODOS: Se efectuó un estudio descriptivo transversal con análisis del Sistema de Información para el Tamizaje (SITAM) y encuestas domiciliarias a mujeres de 30 años o más con autotomas positivas en Jujuy durante 2015-2016, sin registro de triaje. RESULTADOS: El porcentaje estimado de adherencia al triaje fue de entre 96% y 81%. Estos porcentajes son menores a los 60 y 120 días de realizada la AT (18% y 35%, respectivamente). Las mujeres con cobertura de obra social/privada y sin condición de hacinamiento poseen mayor probabilidad de adherir al triaje. El principal motivo de no adherencia fueron los problemas con la entrega de resultados. CONCLUSIONES: Pese a los altos niveles de adherencia al triaje, es necesario incorporar intervenciones que mejoren la entrega de resultados y ayuden a enfrentar las barreras socioestructurales.INTRODUCTION: Human Papillomavirus (HPV) testing effectiveness for cervical cancer (CC) prevention and the potential of HPV self-sampling test versions (SS-HPV) in reducing screening barriers have been recognized. One of the main challenges is to guarantee access to Papanicolaou (Pap) triage testing for women who have tested positive on the SS-HPV. The aim of this study was to measure positive SS-HPV adherence to triage, and to analyze social determinants of triage adherence in women aged 30 year or more with SSHPV+ within the public health system in the province of Jujuy. METHODS: A cross-sectional descriptive study was conducted, analyzing data from the National Screening Information System (SITAM) and home surveys of SS-HPV+ women during 2015-2016, without recorded Pap triage results. RESULTS: The estimated rate of triage adherence ranged between 96% and 81%. These rates were lower 60 and 120 days after AT (18% y 35%, respectively). Women with social security/ private health coverage and without overcrowded housing conditions were most likely to have triage. Problems relating to result delivery were mentioned as the main reason for Pap triage non-adherence. CONCLUSIONS: Although adherence levels are high, there is a critical need for comprehensive interventions to improve delivery of results and to help address socio-structural barriers to adherence to triageFil: Paolino, Melisa Delia. Centro de Estudios de Estado y Sociedad; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Campanera, Alicia. Gobierno de la Provincia de Jujuy. Ministerio de Salud; ArgentinaFil: Martiarena, Silvia Natalia. Gobierno de la Provincia de Jujuy. Ministerio de Salud; ArgentinaFil: Echenique, Alfonsina. Gobierno de la Provincia de Jujuy. Ministerio de Salud; ArgentinaFil: Lopez, Natalia. Hospital Wenceslao Gallardo; ArgentinaFil: Gago, Juan Ezequiel. Instituto Nacional del Cáncer; ArgentinaFil: Straw, Cecilia. Centro de Estudio de Estado y Sociedad; ArgentinaFil: Ponce, Marisa. Centro de Estudio de Estado y Sociedad; Argentina. Comisión Nacional de Investigación Científica y Tecnológica; ChileFil: Arrossi, Silvina. Centro de Estudio de Estado y Sociedad; Argentina. Comisión Nacional de Investigación Científica y Tecnológica; Chil

Involvement of NRN1 gene in schizophrenia-spectrum and bipolar disorders and its impact on age at onset and cognitive functioning

Objectives Neuritin 1 gene (NRN1) is involved in neurodevelopment processes and synaptic plasticity and its expression is regulated by brain-derived neurotrophic factor (BDNF). We aimed to investigate the association of NRN1 with schizophrenia-spectrum disorders (SSD) and bipolar disorders (BPD), to explore its role in age at onset and cognitive functioning, and to test the epistasis between NRN1 and BDNF. Methods The study was developed in a sample of 954 SSD/BPD patients and 668 healthy subjects. Genotyping analyses included 11 SNPs in NRN1 and one functional SNP in BDNF. Results The frequency of the haplotype C-C (rs645649-rs582262) was significantly increased in patients compared to controls (P = 0.0043), while the haplotype T-C-C-T-C-A (rs3763180-rs10484320-rs4960155-rs9379002-rs9405890-rs1475157) was more frequent in controls (P = 3.1 × 10-5). The variability at NRN1 was nominally related to changes in age at onset and to differences in intelligence quotient, in SSD patients. Epistasis between NRN1 and BDNF was significantly associated with the risk for SSD/BPD (P = 0.005). Conclusions Results suggest that: (i) NRN1 variability is a shared risk factor for both SSD and BPD, (ii) NRN1 may have a selective impact on age at onset and intelligence in SSD, and (iii) the role of NRN1 seems to be not independent of BDNF

Involvement of NRN1 gene in schizophrenia-spectrum and bipolar disorders and its impact on age at onset and cognitive functioning

Objectives Neuritin 1 gene (NRN1) is involved in neurodevelopment processes and synaptic plasticity and its expression is regulated by brain-derived neurotrophic factor (BDNF). We aimed to investigate the association of NRN1 with schizophrenia-spectrum disorders (SSD) and bipolar disorders (BPD), to explore its role in age at onset and cognitive functioning, and to test the epistasis between NRN1 and BDNF. Methods The study was developed in a sample of 954 SSD/BPD patients and 668 healthy subjects. Genotyping analyses included 11 SNPs in NRN1 and one functional SNP in BDNF. Results The frequency of the haplotype C-C (rs645649-rs582262) was significantly increased in patients compared to controls (P = 0.0043), while the haplotype T-C-C-T-C-A (rs3763180-rs10484320-rs4960155-rs9379002-rs9405890-rs1475157) was more frequent in controls (P = 3.1 × 10-5). The variability at NRN1 was nominally related to changes in age at onset and to differences in intelligence quotient, in SSD patients. Epistasis between NRN1 and BDNF was significantly associated with the risk for SSD/BPD (P = 0.005). Conclusions Results suggest that: (i) NRN1 variability is a shared risk factor for both SSD and BPD, (ii) NRN1 may have a selective impact on age at onset and intelligence in SSD, and (iii) the role of NRN1 seems to be not independent of BDNF