Síndrome de Wiskott-Aldrich en España: incidencia, mortalidad y sesgo de género durante 21 años / 21 years of Wiskott-Aldrich syndrome in Spain: incidence, mortality, and gender bias

Introducción El síndrome de Wiskott-Aldrich (SWA) es un trastorno raro ligado al cromosoma X que afecta predominantemente a los hombres. Objetivo Este estudio tiene como objetivo investigar la incidencia y muerte intrahospitalaria asociada al SWA en España, así como su sesgo de género. Métodos Se realizó un estudio epidemiológico retrospectivo de base poblacional de 97 pacientes con SWA diagnosticados en hospitales españoles entre 1997 y 2017, a través del Sistema Nacional del Conjunto Mínimo Básico de Datos al alta hospitalaria. Resultados Nuestros resultados revelaron que la incidencia media anual de SWA en España fue de 1,1 por 10 000 000 habitantes (IC95% 0,45−2,33). El riesgo relativo fue mayor en hombres que en mujeres (2,42). El diagnóstico de SWA se produce a edades más tardías en las mujeres (mediana de edad de 47 años) en comparación con los hombres (mediana de edad de 5,5 años). Solo hombres ingresaron al hospital al menos en 10 ocasiones diferentes y todas las muertes se detectaron en hombres. La tasa de mortalidad intrahospitalaria fue del 9,28% en WAS, siendo la mayoría de las muertes asociadas a hemorragia cerebral o infección. Conclusiones El SWA, una enfermedad rara, se diagnosticó en edades más tardías en mujeres y la mortalidad, mayoritariamente asociada a hemorragia cerebral e infección, afectó a hombres (AU)

Background Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder considered to predominantly affect males. Objective This study aims to investigate the incidence and intrahospital death associated with WAS in Spain as well as the gender bias. Methods A population-based retrospective epidemiological study of 97 WAS patients that were diagnosed in Spanish hospitals between 1997 and 2017 was conducted by using data from the National Surveillance System for Hospital Data. Results Our results revealed that the mean annual incidence of WAS in Spain was 1.1 per 10,000,000 inhabitants (CI95% 0,45-2,33). The relative risk was higher in male than female (2.42). WAS diagnosis occurs at later ages in women (median age of 47 years) compared to men (median age of 5.5 years). Only male were admitted to the hospital at least in 10 different occasions and all deaths were detected in men. The intra-hospital death rate was of 9.28% inWAS, being most of the deaths associated with brain hemorrhage or infection. Conclusions WAS, a rare disease, is diagnoses at later ages in women and the mortality wasfound in males mostly associated with brain hemorrhage and infection (AU)

21 years of Wiskott-Aldrich syndrome in Spain: incidence, mortality, and gender bias.

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder considered to predominantly affect males. OBJECTIVE: This study aims to investigate the incidence and intrahospital death associated with WAS in Spain as well as the gender bias. METHODS: A population-based retrospective epidemiological study of 97 WAS patients that were diagnosed in Spanish hospitals between 1997 and 2017 was conducted by using data from the National Surveillance System for Hospital Data. RESULTS: Our results revealed that the mean annual incidence of WAS in Spain was 1.1 per 10,000,000 inhabitants (IC95% 0,45-2,33). The relative risk was higher in male than female (2.42). WAS diagnosis occurs at later ages in women (median age of 47 years) compared to men (median age of 5.5 years). Only male were admitted to the hospital at least in 10 different occasions and all deaths were detected in men. The intra-hospital death rate was of 9.28% in WAS, being most of the deaths associated with brain hemorrhage or infection. CONCLUSIONS: WAS, a rare disease, is diagnoses at later ages in women and the mortality was found in males mostly associated with brain hemorrhage and infection.

Prevalencia del consumo de sustancias en progenitores y su relación con el consumo actual de sustancias legales e ilegales en adolescentes. Un estudio exploratorio con jóvenes escolarizados en la Comunidad Valenciana, España / Prevalence of substance use in parents and their relationship with the current consumption of legal and illegal substances in adolescents. An exploratory study with young people in schools of the region of Valencia, in Spain

Objetivos. Explorar la prevalencia del consumo de sustancias legales e ilegales en los progenitores reportados por una muestra representativa de jóvenes de 14 a 18 años escolarizados en la Comunidad Valenciana; y analizar su relación con el consumo de sustancias legales e ilegales en los jóvenes, considerando si el consumo es realizado por el padre o la madre. Método. Estudio de diseño transversal. Participa una muestra representativa de 10.520 jóvenes, entre 14 y 18 años: 46,5 % hombres. Se administró una encuesta escolar durante marzo y junio de 2006. Se aplica la regresión logística y se utiliza el programa estadístico SPSS 15.0. Resultados. El 43,7 % de los jóvenes respondieron que su madre consume en la actualidad alguna sustancia y 51,4 % respondieron que consume su padre. Las sustancias más consumidas por las progenitoras son el tabaco (30,9 %) y el alcohol (25 %); y por parte de los progenitores el alcohol (35,5 %), y el tabaco (33,9 %). Los jóvenes que reportan que su madre consume tabaco tienen más probabilidad de fumar (odds ratio [OR] = 1,32; p < 0,005), y si la madre consume alguna sustancia tienen más probabilidad de consumir éxtasis o pastillas (OR = 2,44; p < 0,05). Asimismo, tienen más probabilidad de consumir tabaco si el padre fuma (OR = 1,34; p < 0,005), y de tomar alcohol si el padre consume alcohol (OR = 1,53; p < 0,05). Conclusiones. El sexo del progenitor es mediador en la asociación entre el consumo actual de sustancias por parte del progenitor y el consumo actual del joven. El estudio aporta evidencia empírica sobre la etiología del consumo de sustancias legales e ilegales en jóvenes españoles (AU)

Aims. To explore the prevalence of the consumption of legal and illegal drugs in the parents reported by a representative sample of youth from 14 to 18 years enrolled in schools in the region of Valencia; and to analyze its relationship with the consumption of licit and illicit substances among youth, considering if the consumption is done by the father or the mother. Methods. A cross-sectional design. Participants are a representative sample of 10,520 young people between 14 and 18 years: 46.5% male. Was given a school survey in March and June 2006. The logistic regression is applied and the statistical program SPSS 15.0 is used. Results. A total of 43.7% of youth responded that their mother consumes at present some substance, and 51.4% answer that the father consumes. The substances most consumed by the mother are tobacco (30.9%) and alcohol (25%) and by the fathers alcohol (35.5%), and tobacco (33.9%). Youth who reported that his mother uses tobacco are more likely to smoke (OR =1.32; p < .005), and if the mother uses a substance are more likely to use designer drugs (OR =2.44; p < .05). Also, are more likely of consuming tobacco if the father smokes (OR =1.34; p < .005), and to drink alcohol if the father drinks (OR =1.53; p < .05). Conclusions. Gender of the parent is a mediator variable in the association between current use of substances by the parent and current consumption of the young. The study provides empirical evidence on the etiology of the consumption of licit and illicit substances in young population from Spain (AU)

Barreras de accesibilidad al tratamiento: diferencias entre adictos a la heroína y adictos a la cocaína de la Comunidad Valenciana / Accessibility barriers to treatment: differences among heroin and cocaine addicts in the Autonomous Region of Valencia

Introducción. El objetivo principal del presente trabajo fue estudiar los principales motivos que, según los pacientes adictos a la cocaína y a la heroína atendidos en los centros de drogodependencias de atención ambulatoria de la Comunidad Valenciana, pueden retrasar la solicitud de tratamiento, y analizar si existen diferencias según la sustancia principal que motivó la demanda. Material y métodos. Fueron entrevistados 539 pacientes de unidades de conductas adictivas. Se les administró una encuesta sobre tratamientos previos en otros centros y sobre barreras que retrasan el acceso al tratamiento en centros ambulatorios específicos. Resultados. El eje que presentó una mayor puntuación media fue «No conciencia de enfermedad ni problemas asociados» (media ± DE; 2,29 ± 0,639), mientras que el eje «Factores extrínsecos al tratamiento » tuvo la menor puntuación (1,51 ± 0,417). Los adictos a la cocaína puntuaron más alto en los ejes «No conciencia de enfermedad ni problemas asociados» y «Factores extrínsecos al tratamiento», mientras que los heroinómanos obtuvieron mayores puntuaciones en los ejes «Resistencia al cambio » y «Factores intrínsecos al tratamiento». El eje «Estigmatización y respuesta del entorno» no presentó diferencias estadísticamente significativas entre ambos grupos. Conclusiones. Los sujetos evaluados consideraban como poco importantes para acceder al tratamiento las barreras de tipo logístico, económico o administrativo, siendo necesario desarrollar programas de formación entre los profesionales sanitarios para la detección del problema y la motivación al cambio del paciente drogodependiente

Objectives. This study aimed at assessing the main factors why cocaine and heroin dependent patients delay their entrance to treatment in drug abuse specific resources in the Autonomous Region of Valencia, as well as to identify whether differences are found according to the substance that caused the treatment demand. Method. Five hundred and thirty nine patients from Addictive Behaviours Units (UCA) were interviewed. A survey was conducted including items about previous demanded treatment and barriers of accessibility to treatment in specific ambulatory centres. Results. The «Unawareness of illness and related problems» axis (mean ± sd, 2.29 ± 0.639) obtained the highest scores, while the «Treatment extrinsecal factors » axis obtained the lowest scores (1.51 ± 0.417). Male cocaine addicts scored higher in «Unawareness of illness and related problems» and «Treatment extrinsec factors» axis, and male heroin addicts had higher scores in «Resistance to change» and «Treatment intrinsec factors». The «Stigmatization and environment response» axis did not register significative differences among the different user profiles. Conclusions. Barriers such as logistic, financial and administrative were considered less important by evaluated individuals. It is required to develop training programs addressed to health practitioners to detect the problem and to improve the motivation to change of drug dependent patients

[Risk behaviours and seroprevalence to HIV, HBV and HCV in patients of the AIDS information and prevention center in Valencia, Spain]. / Prácticas de riesgo y seroprevalencia al VIH, VHB y VHC en los pacientes del Centro de Información y Prevención del SIDA de Valencia.

OBJECTIVE: The purpose of this study was to describe the sociodemographic and serologic profiles in a first time consultant population at the Information and AIDS Prevention Center of Valencia (Spain). In addition, the HIV infection risk factors were analyzed. METHOD: A cross-sectional study was performed on 1,573 persons who consulted during the year 1995. Sociodemographic and infection risk practices data were recorded and serologic information about HIV, HBV and HCV infection were obtained. Exact binomial method with a 95% interval confidence was used to calculate infection prevalence and the chi square test to make comparisons between qualitative variables. RESULTS: Sex distribution was 66,1% males and 31,9% females; mean age was 29,01 (SD: 9.2) years. Sexual intercourse without condom (25.2%) and parenteral drug abusers (22.6%) were the more frequent risk groups seeking consultation about HIV infection. Global HIV infection prevalence was 12.7% (95% CI= 11,2-14,5%). Among HIV seropositive patients, sexual transmission accounted for 30.8% of cases, of which 69.4% were heterosexual relations. The HIV infection prevalence for different risk groups were the following: parenteral drug abusers 36.8% (95% CI= 31,7-42%), heterosexual intercourse with an HIV-infected partner 24.1% (95% CI= 17,1-32,2%) and homosexual intercourse between men 9,5% (95% CI= 5,8-14,5%). HCV antibody prevalence for parenteral drug abusers was 81.2% (95% CI= 76,7-85,1%). Risk practices with a statistically significant association with HIV infection were: being an injecting drug abuser, as well as having an HIV infected and/or a injecting drug abuser partner. CONCLUSIONS: Drug parenteral abusers are still the target population for prevention programs. Data suggest that prevention and sexual education programs must continue. The main effort should be focused on the young population and on sexual partners of injecting drug abusers and/or HIV seropositive partners.