New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 (RUNX2) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analyses of the RUNX2 gene were performed for Sanger sequencing. Bioinformatics tools were used to predict the function, stability, and structural changes of the mutated RUNX2 proteins. Three novel heterozygous mutations (c.651_652delTA; c.538_539delinsCA; c.662T>A) and a previously reported mutation (c.674G>A) were detected. In silico analysis showed that all mutations had functional, stability-related, and structural alterations in the RUNX2 protein. Our results show novel mutations that enrich the pool of RUNX2 gene mutations with CCD. Moreover, the proband 1 presented clinical data not previously reported that could represent an expanded phenotype of severe expression.

Attitudes toward death and burnout syndrome in geriatrics and gerontology healthcare personnel / Actitudes hacia la muerte y síndrome de burnout en el personal sanitario de geriatría y gerontología

Introduction Geriatric and gerontology healthcare workers are associated with a series of psychosocial risks such as death, bereavement and illness, and this implies a significant emotional and work overload, which can lead to negative attitudes toward death. Objective The aims of this study were to assess attitudes toward death, the level of burnout and the relationship between geriatrics and gerontology professionals. Method A correlational, cross-sectional study was conducted, in which the 42 participants in the sample completed an online questionnaire including the Revised Profile of Attitudes to Death (PAM-R) and the Maslach Burnout Inventory-Human Services Survey (MBI-HSS). Results The results obtained show that the predominant attitude toward death in the sample is that of neutral acceptance, and with regard to burnout syndrome, moderate average levels are found in the dimensions of emotional exhaustion and personal accomplishment, but a low level of depersonalisation. Conclusion Healthcare workers with attitudes of greater fear of death or acceptance of escape tend to experience higher levels of emotional exhaustion and depersonalisation, as do those with an attitude of death avoidance, who also have lower personal fulfillment (AU)

Introducción El personal sanitario de geriatría y gerontología se relaciona con una serie de riesgos psicosociales como son la muerte, el duelo y la enfermedad, esto implica una sobrecarga emocional y laboral importante, las cuales pueden derivar en actitudes hacia la muerte negativas.Objetivos Los objetivos de este estudio fueron evaluar las actitudes hacia la muerte, el nivel de burnout y la relación entre profesionales de geriatría y gerontología. Método Se realizó un estudio correlacional y transversal, en el que los 42 participantes de la muestra cumplimentaron un cuestionario online que incluía el Perfil Revisado de Actitudes hacia la Muerte (PAM-R) y el Maslach Burnout Inventory-Human Services Survey (MBI-HSS). Resultados Los resultados obtenidos muestran que la actitud hacia la muerte predominante en la muestra es la de aceptación neutral, y en cuanto al síndrome de burnout, se encuentran niveles medios moderados en las dimensiones de agotamiento emocional y realización personal, pero un nivel bajo de despersonalización. Conclusión Los trabajadores sanitarios con actitudes de mayor miedo a la muerte o de aceptación de la fuga tienden a experimentar mayores niveles de agotamiento emocional y despersonalización, al igual que los que tienen una actitud de evitación de la muerte, que además presentan una menor realización personal (AU)

Attitudes toward death and burnout syndrome in geriatrics and gerontology healthcare personnel.

INTRODUCTION: Geriatric and gerontology healthcare workers are associated with a series of psychosocial risks such as death, bereavement and illness, and this implies a significant emotional and work overload, which can lead to negative attitudes toward death. OBJECTIVE: The aims of this study were to assess attitudes toward death, the level of burnout and the relationship between geriatrics and gerontology professionals. METHOD: A correlational, cross-sectional study was conducted, in which the 42 participants in the sample completed an online questionnaire including the Revised Profile of Attitudes to Death (PAM-R) and the Maslach Burnout Inventory-Human Services Survey (MBI-HSS). RESULTS: The results obtained show that the predominant attitude toward death in the sample is that of neutral acceptance, and with regard to burnout syndrome, moderate average levels are found in the dimensions of emotional exhaustion and personal accomplishment, but a low level of depersonalisation. CONCLUSION: Healthcare workers with attitudes of greater fear of death or acceptance of escape tend to experience higher levels of emotional exhaustion and depersonalisation, as do those with an attitude of death avoidance, who also have lower personal fulfillment.

Health-related quality of life of people living with HIV infection in Spain: a gender perspective.

Studies exploring gender differences in health-related quality of life (HRQOL) of people living with HIV/AIDS (PLWHA) are scarce and contradictory. This study evaluated gender differences in HRQOL of 744 PLWHA with median (IQR) age 44 (37-48) years and HIV infection diagnosed 12 (5-20) years earlier. Results showed important differences between genders (p < .05). Better male physical health was related to being employed, not having economic worries, not receiving psychological support, not having injected drugs in past, low negative mood HIV-related, low HIV illness representation and internalized stigma, and high body image satisfaction and health behavior. For women, variables were fewer years since HIV diagnosis and low enacted stigma-personal experience of rejection. Mentally, variables in men were being employed, not having injected drugs, having a stable partner, high health behavior, use of problem-solving coping, personal autonomy and personal meaning. In women, better mental health was related to high CD4 cells, self-esteem and body image satisfaction, and negative mood HIV-related. Men and women coincided in absence of past opportunistic infections being related to better physical and mental health, and absence of side effects for physical health and low HIV-related stress and HIV illness representation for mental health. Our results highlight the need for detailed study of gender differences that identify the bio-psycho-socio inequalities that affect HRQOL.

Field Psychometric Testing of the Instrument for Assessment of Psychological Predictors of Well-Being and Quality of Life in People with HIV or AIDS.

The Screenphiv, a screening measure for psychological issues related to HIV, was psychometrically tested in a study involving 744 HIV-infected people in Spain. Participants ages 18-82 (M = 43.04, 72 % men, 28 % women) completed an assessment protocol that included the Screenphiv and the MOS-HIV. A trained interviewer also collected relevant illness-related clinical data and socio-demographics from the participants. A confirmatory factor analysis was used to evaluate the goodness of fit of the Screenphiv's theoretical model and confirmed six first-order factors and two second-order factors [RMSEA (IC 90 %) = 0.07 (0.07-0.08)]. No floor or ceiling effects were observed for the scores. Cronbach's alphas were acceptable for all of the factors (from 0.65 to 0.92). Criterion-related validity also achieved; Screenphiv scores were related to socio-demographic and clinical variables and MOS-HIV summary scores. The Screenphiv is a reliable and valid measure, ready to use in research and clinical settings in Spain.

A Spanish Study on Psychological Predictors of Quality of Life in People with HIV.

In Spain little research has focused on assessment of health indicators, both physical and psychological, in people living with HIV. The aim of this study is to evaluate a set of different indicators that allow us to identify psychological factors that may be influencing the quality of life of these people. The sample consist of 744 people infected with HIV aged between from 18 to 82 years (M = 43.04; SD = 9.43). Results show that factors such as self-esteem and leading a healthy lifestyle act as protectors in both, physical and mental health. On the other hand, financial problems, body disfigurement, and depressive mood could have harmful effects on both, physical and mental health. The structural model reveals depressed mood as the factor with greatest influence upon mental health, which in turn can be largely explained by factors such as the stress generated by HIV and personal autonomy. This work has allowed us to identify the vulnerability and protective factors that play a significant role in the physical and mental HRQOL of persons with HIV, providing guidelines for design and implementation of psychological intervention programs aimed to improve HRQOL in this population.

Ansiedad, depresión y malestar emocional en los profesionales sanitarios de las Unidades de Cuidados Intensivos / Anxiety, depression and emotional distress in the Intensive Care Units health professionals

Los profesionales sanitarios (PS) de las Unidades de Cuidados Intensivos (UCI) no son inmunes a los efectos emocionales que supone enfrentarse diariamente a situaciones de sufrimiento y muerte. Los estudios sobre afectación emocional en PS se han centrado en el síndrome burnout y han presentado ansiedad y depresión como consecuencias de éste. Nuestro objetivo es evaluar los problemas de ansiedad, depresión y percepción subjetiva del estado de ánimo en profesionales de las UCIs. Los participantes fueron 117 PS de la UCI de un Hospital de la Comunidad Valenciana (España). Los análisis descriptivos muestran que entre 14.6%-20% y un 4-7% de los participantes presentan síntomas de ansiedad y de depresión respectivamente. Los análisis diferenciales, muestran diferencias en función del género en ansiedad y en función del puesto laboral en depresión. La edad y la experiencia mostraron relación con depresión y ansiedad. Además, se realizaron análisis de regresión para conocer qué variables juegan un papel más importante en la presencia de síntomas de ansiedad y depresión, Los resultados muestran que trabajar a diario en contacto con el sufrimiento y la muerte, en un ambiente con numerosas demandas, puede tener consecuencias sobre la salud mental de los profesionales

Health Workers (HW) who work in the Intensive Care Units (ICU), are not exempt from emotional effects of coping with suffering and death situations daily. Many studies in HW have focused on the burnout syndrome and have presented anxiety and depression as consequences of this syndrome. The aim of this work is to assess the anxiety and depression problems, as well as the subjective perception of mood of the ICU health workers. Participants were 117 ICU health workers of a Hospital in the Valencian Community (Spain). The descriptive analyses show that between 14.6-20% and a 4-7% of participants have symptoms of anxiety and depression, respectively. Differential analyses, show gender differences in several measures of anxiety, as well as on depression scores. Age and experience are related to depression and anxiety. Furthermore, we performed regression analyses to know the importance of the different variables in the presence of symptoms of anxiety and depression. The results show that working in daily contact with suffering and death, in a Unit in which the demands are many, could have implications for the mental health of professionals

Sexual compulsivity scale: adaptation and validation in the spanish population.

Sexual compulsivity has been studied in relation to high-risk behavior for sexually transmitted infections. The aim of this study was the adaptation and validation of the Sexual Compulsivity Scale to a sample of Spanish young people. This scale was applied to 1,196 (891 female, 305 male) Spanish college students. The results of principal components factor analysis using a varimax rotation indicated a two-factor solution. The reliability of the Sexual Compulsivity Scale was found to be high. Moreover, the scale showed good temporal stability. External correlates were examined through Pearson correlations between the Sexual Compulsivity Scale and other constructs related with HIV prevention. The authors' results suggest that the Sexual Compulsivity Scale is an appropriate measure for assessing sexual compulsivity, showing adequate psychometric properties in the Spanish population.

Development of a new instrument for the assessment of psychological predictors of well-being and quality of life in people with HIV or AIDS.

This study aims to develop an instrument for the assessment of psychological predictors of well-being and quality of life (QoL) in people living with HIV. A four-step procedure was followed to achieve this objective. A literature review, focus group in different regions of Spain and content analysis generated a preliminary pool of 96 items. Interjudgement ratings over the items and a cognitive debriefing interview were performed to delete or review items (one omitted and 15 reviewed). The psychometric properties of the instrument were assessed in a sample of 84 HIV+. Pilot testing allowed a new wave of depuration process by empirical criteria (30 items omitted). A final pool of 63 items covering 23 facets (α from 0.53 to 0.95) of psychological predictors remained. Exploratory factorial analysis (GLS) assessing the underlying structure of the questionnaire showed a six-factor model explaining 56.5 of variance. Empirical exploratory structure revealed evidence of goodness of fit (χ(2) = 113.110, gl = 130, p > 0.05; RMSEA = 0.017; RMSEA IC90 % 0.000-0.057). This study presents the first instrument able to screen key psychological variables expected to be related to adjustment, well-being and QoL in people with HIV.

Afrontamiento de la muerte en familiares de pacientes ingresados en una unidad de cuidados intensivos: valoración diferencial en función de variables sociodemográficas / Confronting death in families of patients admitted to Intensive Care Units: differential assessment using sociodemographic variables

Objetivo: analizar qué aspectos son más importantes en el afrontamiento de la muerte según los familiares de pacientes de unidad de cuidados intensivos (UCI), considerando la influencia de distintas variables sociodemográficas (sexo, edad, estado civil y nivel de estudios).Material y método: Se realizó un estudio descriptivo con familiares de pacientes ingresados en la UCI del Hospital General de Castellón (de octubre de 2008 a diciembre de 2009). De las 53 entrevistas iniciales, el 26% de los sujetos no cumplía los criterios de inclusión para participar en el estudio, quedando la muestra final compuesta por 39 familiares que voluntariamente contestaron el cuestionario de ayuda a morir en paz. Resultados: Los aspectos que más ayudarían a los familiares llegado el momento de la muerte serían sentirse cerca, comunicarse y estrechar vínculos afectivos con las personas queridas (63,2%) y pensar que los médicos puedan controlar el dolor/síntomas (..) (AU)

Objective: To analyze the main factors that could help to face one’s own death from relatives of ICU patients perspective, taking into account the influence of sociodemographic variables (gender, age, marital status and educational level).Material and method: a descriptive study was carried out with family members of patients admitted to the ICU in the General Hospital (Castellón, Spain) (October 2008- December 2009). From 53 initial interviews, 26% of subjects were excluded of the study, so the total sample was made up of 39 relatives who voluntarily answered the Helping to Die in Peace Questionnaire. Results: The most relevant factors that could help relatives at the time of death would be to be close, to communicate and to strengthen bonds with loved ones (63.2%) and to receive adequate pain/symptom management (52.6%). In these assessments were found statistically significant differences by gender and educational level. According to gender, women prioritize the meaning of life (P=.012) and that their deaths do not (..) (AU)

[Psychometric properties of an instrument for assessing cyber-sex addiction]. / Propiedades psicométricas de un instrumento de evaluación de la adicción al cibersexo.

Psychometric properties of an instrument for assessing cyber-sex addiction. Cyber-sex addiction is a «new pathology¼ whose prevalence has grown rapidly in recent years. Therefore, it is important to have validated assessment instruments. The aim of this study was the adaptation and validation of the Internet Sex Screening Test (ISST) for its use in a Spanish population. The instrument was administered to 1239 Spanish college students. The results yielded five components that account for 47.5% of the variance. Internal consistency was .88 and temporal stability was .84. Moreover, the instrument had adequate convergent and discriminant validity and was related to other behaviors such as the use of pornography, internet addiction, number of hours online and sexual frequency. Therefore, this tool is proposed as an appropriate measure to assess cyber-sex addiction.

Propiedades psicométricas de un instrumento de evaluación de la adicción al cibersexo / Psychometric properties of an instrument for assessing cyber-sex addiction

La adicción al cibersexo constituye una «nueva patología» cuya prevalencia ha aumentado con rapidez en los últimos años, por lo que se precisa de instrumentos de evaluación validados. En este trabajo presentamos la adaptación y validación para su administración en población española del Internet Sex Screening Test (ISST). El instrumento fue administrado a 1.239 estudiantes universitarios españoles. Los resultados muestran cinco componentes que explican el 47,5% de la varianza. La consistencia interna es de 0,88 y la estabilidad temporal de 0,84. Por otro lado, el instrumento presenta una adecuada validez convergente y discriminante, mostrando la puntuación total una correlación positiva significativa con otros comportamientos como el consumo de material pornográfico, la adicción a Internet, el número de horas online y la frecuencia sexual. Por todo ello se propone este instrumento como medida apropiada para la evaluación de la adicción al cibersexo (AU)

Cyber-sex addiction is a «new pathology» whose prevalence has grown rapidly in recent years. Therefore, it is important to have validated assessment instruments. The aim of this study was the adaptation and validation of the Internet Sex Screening Test (ISST) for its use in a Spanish population. The instrument was administered to 1239 Spanish college students. The results yielded five components that account for 47.5% of the variance. Internal consistency was .88 and temporal stability was .84. Moreover, the instrument had adequate convergent and discriminant validity and was related to other behaviors such as the use of pornography, internet addiction, number of hours online and sexual frequency. Therefore, this tool is proposed as an appropriate measure to assess cyber-sex addiction(AU)