European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.

INTRODUCTION: Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. METHODS AND ANALYSIS: EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms. ETHICS AND DISSEMINATION: To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).

[Out-of-hospital cardiac arrest: University of Trieste students' skills on resuscitative maneuvers and automated external defibrillator]. / Arresto cardiaco extraospedaliero: le competenze degli studenti dell'Università degli Studi di Trieste sulle manovre rianimatorie e l'utilizzo del defibrillatore automatico esterno.

BACKGROUND: Out-of-hospital cardiac arrest is the third leading cause of death in industrialized countries. Although most cardiac arrests are witnessed, survival is only 2-10%, since bystanders are often unable to correctly perform cardiopulmonary resuscitation (CPR). This study aims to assess the theoretical and practical knowledge of CPR and the use of the automatic external defibrillator in university students. METHODS: The study involved a total of 1686 students from 21 different faculties of the University of Trieste, 662 students from healthcare faculties and 1024 from non-healthcare faculties. Basic life support and early defibrillation (BLS-D) courses and retrainings after 2 years are mandatory for students in their final 2-year healthcare faculties at the University of Trieste. Through the platform "EUSurvey" from March to June 2021, they were given an online questionnaire of 25 multiple choice questions to investigate the performance of BLS-D. RESULTS: In the overall population, 68.7% knew how to diagnose a cardiac arrest and 47.5% knew the time frame after which irreversible brain damage occurs. Practical knowledge was analyzed by evaluating the correct answers to all four questions on performing CPR (i.e. hand position during compressions, frequency of compressions, depth of compressions, and ventilation-compression ratio). Health faculties students have better theoretical and practical knowledge of CPR than their colleagues of non-healthcare faculties, with better overall knowledge on the all four practical questions (11.2% vs 4.3%; p<0.001). Final-year medical students of the University of Trieste, who attended the BLS-D course and underwent retraining after 2 years, have achieved better results than first year medical students (without BLS-D training) (38.1% vs 2.7%; p<0.001). CONCLUSION: Mandatory BLS-D training and retraining leads to a better knowledge of cardiac arrest management and consequently a better patient outcome. In order to improve patient survival, heartsaver (BLS-D for laics) training should be extended as obligatory in all university courses.

Sensibilidad y especificidad de los criterios diagnósticos DSM-5 en el trastorno del espectro autista en una muestra de niños y adolescentes españoles / Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample

Introducción Existe controversia acerca de los criterios DSM-5 para el diagnóstico de los trastornos del espectro autista (TEA). En la literatura encontramos resultados discrepantes, siendo el objetivo del estudio determinar la sensibilidad y la especificidad de los criterios DSM-5 para TEA en niños y adolescentes españoles. También se determinará la estabilidad del diagnóstico al pasar del DSM-IV-TR al DSM-5 y las diferencias clínicas entre TEA y trastorno de la comunicación social (TCS). Material y métodos El estudio se llevó a cabo en 2017, revisando las historias clínicas de los pacientes evaluados en nuestro servicio. Los ítems de la entrevista diagnóstica para el autismo (Autism Diagnostic Interview-Revised) se ajustaron al DSM-5 y se utilizaron para evaluar la sensibilidad y la especificidad de dicho manual. Resultados La sensibilidad del DSM-5 fue de 0,69-1,00, mayor para el género femenino, sin diferencias con respecto a la edad y menor para los pacientes con bajo funcionamiento. La especificidad fue de 0,64-0,73. Respecto a la estabilidad, el 83,3% de los casos de autismo diagnosticados con el DSM-IV-TR mantuvieron el diagnóstico siguiendo los criterios del DSM-5. En cuanto a las diferencias entre los pacientes diagnosticados de TEA y los diagnosticados de TCS, cabe mencionar que los primeros requirieron más tratamientos farmacológicos durante su evolución. Conclusiones Se necesitan más estudios centrados en el diagnóstico de TCS para determinar si la evolución es diferente a la de los pacientes diagnosticados de TEA. También será necesario confeccionar nuevas herramientas diagnósticas y terapéuticas para los pacientes con diagnóstico de TCS. (AU)

Background Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). Methods This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. Results DSM-5 sensitivity ranged from 0.69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the “low-functioning” category. DSM-5 specificity ranged from 0.64 to 0.73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. Conclusions Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools. (AU)

Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample.

BACKGROUND: Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). METHODS: This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. RESULTS: DSM-5 sensitivity ranged from .69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the "low-functioning" category. DSM-5 specificity ranged from .64 to .73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. CONCLUSIONS: Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools.

Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample. / Sensibilidad y especificidad de los criterios diagnósticos DSM-5 en el trastorno del espectro autista en una muestra de niños y adolescentes españoles.

BACKGROUND: Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). METHODS: This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. RESULTS: DSM-5 sensitivity ranged from 0.69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the "low-functioning" category. DSM-5 specificity ranged from 0.64 to 0.73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. CONCLUSIONS: Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools.

Putative parapoxvirus-associated foot disease in the endangered huemul deer (Hippocamelus bisulcus) in Bernardo O'Higgins National Park, Chile.

The huemul (Hippocamelus bisulcus) is an endangered cervid endemic to southern Argentina and Chile. Here we report foot lesions in 24 huemul from Bernardo O'Higgins National Park, Chile, between 2005 and 2010. Affected deer displayed variably severe clinical signs, including lameness and soft tissue swelling of the limbs proximal to the hoof or in the interdigital space, ulceration of the swollen tissues, and some developed severe proliferative tissue changes that caused various types of abnormal wear, entrapment, and/or displacement of the hooves and/or dewclaws. Animals showed signs of intense pain and reduced mobility followed by loss of body condition and recumbency, which often preceded death. The disease affected both genders and all age categories. Morbidity and mortality reached 80% and 40%, respectively. Diagnostics were restricted to a limited number of cases from which samples were available. Histology revealed severe papillomatous epidermal hyperplasia and superficial dermatitis. Electron microscopy identified viral particles consistent with viruses in the Chordopoxvirinae subfamily. The presence of parapoxvirus DNA was confirmed by a pan-poxvirus PCR assay, showing high identity (98%) with bovine papular stomatitis virus and pseudocowpoxvirus. This is the first report of foot disease in huemul deer in Chile, putatively attributed to poxvirus. Given the high morbidity and mortality observed, this virus might pose a considerable conservation threat to huemul deer in Chilean Patagonia. Moreover, this report highlights a need for improved monitoring of huemul populations and synergistic, rapid response efforts to adequately address disease events that threaten the species.

The phylogenetic position of Ixodes stilesi Neumann, 1911 (Acari: Ixodidae): morphological and preliminary molecular evidences from 16S rDNA sequences.

The female of Ixodes stilesi Neumann, 1911 (Acari Ixodidae) is redescribed and the male and nymph are described from specimens collected from Pudu puda (Molina) (Artiodactyla: Cervidae) in Chile. Both sexes of I. stilesi have characteristics of the subgenera Ixodes Latreille, 1795 and Ixodiopsis Filippova, 1957. The females of I. stilesi are peculiar in having the combination of the sinuous scutum outline, rounded porose areas with distinct borders separated by the width of one area, slender and long palpi, and two subequal spurs on coxa I. The male is unique in having a combination of a posteriorly wrinkled marginal folder, a basis capituli longer than wide, a non-crenulate hypostome toothed portion, two spurs on coxa II to IV and the presence of a pseudoscutum. The nymph of I. stilesi has blunt anterior and posterior processes on palpal article I (characteristics of the subgenus Ixodiopsis and some Pholeoixodes Schulze, 1942) and a wing-shaped basis capituli with a prominent triangular cornua. Phylogenetic analyses based on 16S mitochondrial rDNA sequences of 12 Neotropical and two Australian Ixodes species, plus three argasids, were carried out to clarify the position of I. stilesi. The results of phylogenetic analyses and morphological characters indicate a close relationships between I. stilesi and two other Neotropical species of uncertain subgeneric status, I. neuquenensis Ringuelet, 1947 and I. sigelos Keirans, Clifford & Corwin, 1976.

Prevalencia de parásitos en Apis mellifera L en colmenares del secano costero e interior de la VI Región, Chile / Prevalence of parasites in Apis mellifera L. in beehives of dry coastal and interior of VI Region, Chile

Se procesaron un total de 1.418 muestras para determinar la prevalencia de Varroa destructor, Braula coeca, Nosema apis y Malpinghamoeba mellificae durante cuatro estaciones en el Secano Costero e Interior de la Sexta Región, Chile. Se realizó una comparación entre los resultados obtenidos desde colmenas rústicas y modernas. Los resultados obtenidos indicaron una mayor prevalencia de V. destructor en verano, con un 58 ± 7,05 por ciento; la prevalencia obtenida desde colmenas modernas fue significativamente más alta, excepto para primavera de 1999, en la cual no existieron diferencias entre colmenas. B. coeca sólo se detectó en una estación, con un 1,4 ± 1,68 por ciento de prevalencia. Para N. apis los más altos valores se obtuvieron en primavera con un 78,26 ± 5,8 por ciento y para M. mellificae se registró el más alto valor en primavera, con un 8,69 ± 4,03 por ciento, en estas dos enfermedades no existieron diferencias entre colmenas rústicas y modernas.