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Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined. In this case report, a 38-year-old Hispanic woman, G5P3013, with a monochorionic diamniotic twin gestation with one fetus displaying significant cranial abnormalities on prenatal ultrasound and magnetic resonance imaging (MRI) of the brain is presented. Fetal anomalies included bilateral ventriculomegaly, absent cavum septum pellucidum, and absent corpus callosum. Diagnostic amniocentesis with chromosome analysis, chromosomal microarray, alpha-fetoprotein, cytomegalovirus, toxoplasmosis, and parvovirus had normal results. Whole-exome sequencing for the anomalous fetus detected a de novo mosaic variant of uncertain significance (VUS) in the calcium/calmodulin dependent serine protein kinase (CASK) gene: c.1963 A > G (p.Asn655Asp). This variant was absent in the normal twin fetus, the mother, and the father. Pathogenic CASK gene mutations are associated with three syndromes: FG syndrome 4, intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH), and intellectual developmental disorder with or without nystagmus. Whole-exome sequencing identified a potential etiology for the anomalies detected. The variant likely arose de novo and was the potential cause of the identified cranial abnormalities in one fetus of this monochorionic diamniotic twin gestation. Whole-exome sequencing may provide additional diagnostic utility when standard diagnostic testing is noncontributory.

Allergic rhinitis (AR) is a chronic respiratory condition that internationally continues to be burdensome and impacts quality of life. Despite availability of medicines and guidelines for healthcare providers for the optimal management of AR, optimisation of its management in the community continues to be elusive. The reasons for this are multi-faceted and include both environmental and healthcare related factors. One factor that we can no longer ignore is that AR management is no longer limited to the domain of healthcare provider and that people with AR make their own choices when choosing how to manage their condition, without seeking advice from a health care provider. We must build a bridge between healthcare provider knowledge and guidelines and patient decision-making. With this commentary, we propose that a shared decision-making approach between healthcare professionals and people with AR be developed and promoted, with a focus on patient health literacy. As custodians of AR knowledge, we have a responsibility to ensure it is accessible to those that matter most—the people with AR.

This paper examines the status of the development of national digital health information systems (HIS) in Commonwealth of Independent States (CIS) member states. Data for research were collected using a questionnaire adapted from the questionnaire of the WHO’s Third Global Survey on eHealth. The results showed that the digital transformation of HIS was occurring in all seven CIS member states (participating in the study), which were financed by different resources. Laws and regulations on electronic medical records (EMR) use were present in almost all participating CIS member states. Various international standards and classifications were used to support development and the interoperability of digital health information system (d-HIS), including International Classification of Diseases (ICD), Digital Imaging and Communications in Medicine (DICOM), ISO 18308, Logical Observation Identifiers, Names, and Codes (LOINC), Systematized Nomenclature of Medicine Clinical Terms (SNOMED CT), and ISO TC 215. Several CIS member states had adopted a national information security strategy for the safe processing of both personal data and medical confidential information. The digital transformation of healthcare and the Empowerment through Digital Health initiative are taking place in all CIS member states, which are at different stages of introducing electronic medical and health records.

The elimination of both measles and rubella remains a priority for all 53 Member States of the World Health Organization (WHO) European Region. To provide an update on the epidemiological status of measles and rubella in the Region, we reviewed surveillance data on both diseases for 2023 submitted monthly by national surveillance institutions. We analyzed the cases of measles and rubella for 2023 by age group, case classification, vaccination, hospitalization, and importation status and report on measles-related deaths. In 2023, 60,860 measles cases, including 13 fatal cases, were reported in 41 countries. Most cases (95%; n = 57,584) were reported by six countries: Azerbaijan, Kazakhstan, Kyrgyzstan, Romania, the Russian Federation, and Türkiye. Of the 60,848 cases with data on age, 19,137 (31%) were 1–4 years old and 12,838 (21%) were 5–9 years old. A total of 10,412 (17%) were 20 years and older. The genotypes identified in the Region were largely dominated by D8 variants (n = 1357) and the remainder were B3 variants (n = 221). In 2023, 345 rubella cases were reported by 17 countries, mostly from Poland, Kyrgyzstan, Tajikistan, Türkiye, and Ukraine. A total of 262 cases (76%) were classified as clinically compatible and 79 (23%) were laboratory-confirmed. To achieve the elimination of measles and rubella in the Region, political commitment needs to be revived to enable urgent efforts to increase vaccination coverage, improve surveillance and outbreak preparedness, and respond immediately to outbreaks.

BackgroundAlcohol is a well-established risk factor for head and neck cancer (HNC). This study aims to explore the effect of alcohol intensity and duration, as joint continuous exposures, on HNC risk.MethodsData from 26 case-control studies in the INHANCE Consortium were used, including never and current drinkers who drunk ≤10 drinks/day for ≤54 years (24234 controls, 4085 oral cavity, 3359 oropharyngeal, 983 hypopharyngeal and 3340 laryngeal cancers). The dose-response relationship between the risk and the joint exposure to drinking intensity and duration was investigated through bivariate regression spline models, adjusting for potential confounders, including tobacco smoking.ResultsFor all subsites, cancer risk steeply increased with increasing drinks/day, with no appreciable threshold effect at lower intensities. For each intensity level, the risk of oral cavity, hypopharyngeal and laryngeal cancers did not vary according to years of drinking, suggesting no effect of duration. For oropharyngeal cancer, the risk increased with durations up to 28 years, flattening thereafter. The risk peaked at the higher levels of intensity and duration for all subsites (odds ratio = 7.95 for oral cavity, 12.86 for oropharynx, 24.96 for hypopharynx and 6.60 for larynx).ConclusionsPresent results further encourage the reduction of alcohol intensity to mitigate HNC risk.

Head and neck cancer (HNC) risk prediction models based on risk factor profiles have not yet been developed. We took advantage of the large database of the International Head and Neck Cancer Epidemiology (INHANCE) Consortium, including 14 US studies from 1981-2010, to develop HNC risk prediction models. Seventy percent of the data were used to develop the risk prediction models; the remaining 30% were used to validate the models. We used competing-risk models to calculate absolute risks. The predictors included age, sex, education, race/ethnicity, alcohol drinking intensity, cigarette smoking duration and intensity, and/or family history of HNC. The 20-year absolute risk of HNC was 7.61% for a 60-year-old woman who smoked more than 20 cigarettes per day for over 20 years, consumed 3 or more alcoholic drinks per day, was a high school graduate, had a family history of HNC, and was non-Hispanic white. The 20-year risk for men with a similar profile was 6.85%. The absolute risks of oropharyngeal and hypopharyngeal cancers were generally lower than those of oral cavity and laryngeal cancers. Statistics for the area under the receiver operating characteristic curve (AUC) were 0.70 or higher, except for oropharyngeal cancer in men. This HNC risk prediction model may be useful in promoting healthier behaviors such as smoking cessation or in aiding persons with a family history of HNC to evaluate their risks.

Digital Education Initiatives and Timely Solutions (DIG-IT) is an Erasmus+ project collaboration between university academics, clinical educators, industry partners, healthcare professionals, and technology experts over 5 European Union (EU) states. The objectives are to create digital educational capacity for academic faculty and mobile learning opportunities for continuing professional healthcare education. The first deliverable of this project was the innovative European Union Digital Education Quality Standards Framework and Toolkit or EU-DEF. This framework can be used to consider all principle and secondary aspects when designing, delivering, and evaluating digital education resources. In this article we explore the framework efficacy in collaboratively developing two open access, mobile healthcare apps, ECG Interpretation for Nurses and Nurse Leadership and Management. We describe the teamwork needed and steps taken during this process, and demonstrate the adaptability, usability, and value of this tool for other online development projects. The EU-DEF is an evidence-based, comprehensive framework that can be used as a starting point for individuals or teams when developing digital educational projects. Considering all variables helps focus the expertise required to produce robust end-products.

Abstract Background Health literacy interventions and research outcomes are not routinely or systematically implemented within healthcare systems. Co‐creation with stakeholders is a potential vehicle through which to accelerate and scale up the implementation of innovation from research. Methods This narrative case study describes an example of the application of a co‐creation approach to improve health literacy in an Australian public health system that provides hospital and community health services to one million people from socioeconomically and culturally diverse backgrounds. We provide a detailed overview of the value co‐creation stages and strategies used to build a practical and sustainable working relationship between a University‐based academic research group and the local health district focussed on improving health literacy. Results Insights from our experience over a 5‐year period informed the development of a revised model of co‐creation. The model incorporates a practical focus on the structural enablers of co‐creation, including the development of a Community of Practice, co‐created strategic direction and shared management systems. The model also includes a spectrum of partnership modalities (spanning relationship‐building, partnering and co‐creating), acknowledging the evolving nature of research partnerships and reinforcing the flexibility and commitment required to achieve meaningful co‐creation in research. Four key facilitators of health literacy co‐creation are identified: (i) local champions, (ii) co‐generated resources, (iii) evolving capability and understanding and (iv) increasing trust and partnership synergy. Conclusion Our case study and co‐creation model provide insights into mechanisms to create effective and collaborative ways of working in health literacy which may be transferable to other health fields in Australia and beyond. Patient and Public Contribution Our co‐creation approach brought together a community of practice of consumers, healthcare professionals and researchers as equal partners.

Introduction During crises, such as infectious disease outbreaks and disasters, the overproduction of data from multiple sources, the quality of the information and the speed at which new information is [...], Objective To compare and summarize the literature regarding infodemics and health misinformation, and to identify challenges and opportunities for addressing the issues of infodemics. Methods We searched MEDLINE[R], Embase[R], Cochrane Library of Systematic Reviews, Scopus and Epistemonikos on 6 May 2022 for systematic reviews analysing infodemics, misinformation, disinformation and fake news related to health. We grouped studies based on similarity and retrieved evidence on challenges and opportunities. We used the AMSTAR 2 approach to assess the reviews' methodological quality. To evaluate the quality of the evidence, we used the Grading of Recommendations Assessment, Development and Evaluation guidelines. Findings Our search identified 31 systematic reviews, of which 17 were published. The proportion of health-related misinformation on social media ranged from 0.2% to 28.8%. Twitter, Facebook, YouTube and Instagram are critical in disseminating the rapid and far-reaching information. The most negative consequences of health misinformation are the increase of misleading or incorrect interpretations of available evidence, impact on mental health, misallocation of health resources and an increase in vaccination hesitancy. The increase of unreliable health information delays care provision and increases the occurrence of hateful and divisive rhetoric. Social media could also be a useful tool to combat misinformation during crises. Included reviews highlight the poor quality of published studies during health crises. Conclusion Available evidence suggests that infodemics during health emergencies have an adverse effect on society. Multisectoral actions to counteract infodemics and health misinformation are needed, including developing legal policies, creating and promoting awareness campaigns, improving health-related content in mass media and increasing people's digital and health literacy. [phrase omitted] Objectif Comparer et synthetiser la litterature consacree a l'infodemie et a la desinformation sanitaire, mais aussi identifier les defis et opportunites inherents a la lutte contre cette problematique. Methodes Nous avons explore les bases de donnees MEDLINE[R], Embase[R], Cochrane Library of Systematic Reviews, Scopus et Epistemonikos le 6 mai 2022 a la recherche de revues systematiques analysant les infodemies, la desinformation, les fausses informations et les <> liees a la sante. Nous avons ensuite regroupe les etudes en fonction de leurs similitudes et en avons extrait des elements probants relatifs aux defis et opportunites. Nous avons employe l'approche AMSTAR-2 afin de mesurer la qualite methodologique des differentes revues. Enfin, pour evaluer la qualite des elements probants, nous avons utilise les criteres du systeme GRADE (Grading of Recommendations, Assessment, Development and Evaluation, soit <>). Resultats Nos recherches nous ont permis de denicher 31 revues systematiques, dont 17 ont ete publiees. Sur les reseaux sociaux, le pourcentage d'informations fallacieuses concernant la sante etait compris entre 0,2 et 28,8%. Twitter, Facebook, YouTube et Instagram jouent un role preponderant dans la propagation rapide d'informations a grande echelle. Cette desinformation entraine de multiples consequences negatives: hausse du nombre d'interpretations erronees ou trompeuses des preuves existantes, impact sur la sante mentale mauvaise affectation des ressources en sante et mefiance croissante vis-a-vis de la vaccination. La proliferation des informations sanitaires non fiables retarde la prise en charge tout en alimentant les reticences et les discours clivants. Neanmoins, les reseaux sociaux peuvent aussi se reveler utiles dans la lutte contre la desinformation lors des crises. Les revues examinees soulignent la qualite mediocre des etudes publiees durant les crises sanitaires. Conclusion Tout porte a croire que les infodemies qui surgissent dans le cadre des urgences sanitaires sont nefastes pour la societe. Des actions multisectorielles sont necessaires pour combattre les fausses informations, notamment le developpement de politiques juridiques l'elaboration et le deploiement de campagnes de sensibilisation l'amelioration des contenus dedies a la sante dans les medias de masse et une meilleure education a la culture numerique et a la sante. [phrase omitted] La infodemia y la informacion erronea sobre la salud: una revision sistematica de las revisiones Objetivo Comparar y resumir la literatura relacionada con la infodemia y la informacion erronea sobre la salud, e identificar los desafios y las oportunidades para abordar los problemas de la infodemia. Metodos Se realizaron busquedas en MEDLINE[R], Embase[R], la Biblioteca Cochrane de Revisiones Sistematicas, Scopus y Epistemonikos el 6 de mayo de 2022 para obtener revisiones sistematicas que analizaran la infodemia, la informacion erronea, la desinformacion y las noticias falsas relacionadas con la salud. Se agruparon los estudios en funcion de la similitud y se recuperaron las pruebas sobre los desafios y las oportunidades. Se utilizo el enfoque AMSTAR-2 para valorar la calidad metodologica de las revisiones. Ademas, para evaluar la calidad de las pruebas, se utilizaron los criterios del sistema GRADE (Grading of Recommendations Assessment, Development and Evaluation, o bien, el grado asignado a las recomendaciones, la valoracion, el desarrollo y la evaluacion). Resultados Nuestra busqueda identifico 31 revisiones sistematicas, de las que 17 estaban publicadas. El porcentaje de informacion erronea relacionada con la salud en las redes sociales oscilo entre el 0,2 y el 28,8 %. Twitter, Facebook, YouTube e Instagram son fundamentales en la difusion de la informacion rapida y de gran alcance. Las consecuencias mas negativas de la informacion erronea sobre la salud son el aumento de las interpretaciones enganosas o incorrectas de las pruebas disponibles, el impacto en la salud mental, la asignacion inadecuada de los recursos sanitarios y el aumento de las dudas sobre la vacunacion. El aumento de la informacion sanitaria poco fiable retrasa la prestacion de cuidados y aumenta la aparicion de una retorica de rechazo y division. Por otra parte, los medios sociales podrian ser una herramienta util para combatir la informacion erronea durante las crisis. Las revisiones incluidas destacan la mala calidad de los estudios publicados durante las crisis sanitarias. Conclusion Las pruebas disponibles sugieren que la infodemia durante las emergencias sanitarias tiene un efecto adverso en la sociedad. Se necesitan acciones multisectoriales para contrarrestar la infodemia y la informacion erronea sobre la salud, como el desarrollo de politicas legales, la creacion y promocion de campanas de sensibilizacion, la mejora de los contenidos relacionados con la salud en los medios de comunicacion y el aumento de la alfabetizacion digital y sanitaria de la poblacion.

Este estudo relata o primeiro caso registrado de cleptoparasitismo de ninho na família Thraupidae, envolvendo o saí-azul (Dacnis cayana) e um ninho de caneleiro-de-chapéu-preto (Pachyramphus validus). O cleptoparasitismo é um comportamento no qual um indivíduo rouba comida ou recursos de outro, e o cleptoparasitismo de ninho refere-se especificamente ao roubo de material de nidificação. O saí-azul roubou com sucesso material de nidificação do ninho do caneleiro-de-chapéu-preto sem ser notado. Esse comportamento oferece vantagens como redução do esforço na busca de material e diminuição do risco de predação, mas também traz riscos como a defesa dos donos do ninho e a possibilidade de carregar patógenos. Esta observação expande nossa compreensão dos comportamentos cleptoparasitários nessas espécies de aves.

There is much interest to understand how different neural rhythms function, interact and are regulated. Here, we focus on WM delay gamma to investigate its coupling with alpha/beta rhythms and its neuromodulation by methylphenidate. We address this through the use of human EEG conducted in healthy and ADHD subjects which revealed ADHD-specific electrophysiological deficits and MPH-induced normalization of gamma amplitude and its coupling with alpha/beta rhythms. Decreased alpha/beta-gamma coupling is known to facilitate memory representations via disinhibition of gamma ensembles coding the maintained stimuli. Here, we present EEG evidence which suggests that these dynamics are sensitive to catecholaminergic neuromodulation. MPH decreased alpha/beta-gamma coupling and this was related to the increase in delay-relevant gamma activity evoked by the same drug. These results add further to the neuromodulatory findings that reflect an electrophysiological dimension to the well-known link between WM delay and catecholaminergic transmission.

This music score was submitted for the Kaleidoscope 2020 Call for Scores, an open access collaboration with the UCLA Music Library.