Center for Scientific Review

Balanced Robertsonian translocation (ROB) is the most common chromosomal rearrangement in humans, with an estimated occurrence of 1 in 800 in newborn studies. Carriers are at increased risk of cancer and often diagnosed at fertility clinics after facing recurrent miscarriages, infertility, or aneuploid offspring. Genotyping carriers with DNA sequencing has been challenging because of gaps and misrepresentation of the translocation fusion site in the human reference genome. Only recently, telomere-to-telomere (T2T) human genomes successfully revealed sequences of the acrocentric short arms, including the most common ROB fusion site. A ROB results in loss of two ribosomal DNA (rDNA) arrays and its adjacent distal sequences, including the highly conserved distal junction (DJ). Here, we present a novel method to type ROB carriers directly from short sequencing reads by estimating DJ copy number. We demonstrate that our method successfully genotypes ROBs using a reference-free approach or alignments to either T2T-CHM13v2 or GRCh38. Applying the method to a cohort of healthy newborns and family members (n=4,172) as well as the UK Biobank (n=490,416), we find candidate ROBs at a frequency consistent with the previously reported 1 in 800 incidence (0.11-0.12%). In addition to ROB carriers, we report the frequency of one DJ loss (9, 2.8-3.4%) or gain (11+, 8.4-9.3%) from the two cohorts and the 1000 Genomes Project (n=3,202), and characterize the underlying structural variation in near-T2T genome assemblies from the Human Pangenome Reference Consortium. Importantly, our method provides the first sequencing-based diagnostic for Robertsonian chromosomes and can be applied to low-coverage sequencing data, enhancing its clinical applicability and enabling new studies of structural variation on the acrocentric chromosomes.

ABSTRACTThis study investigated developmental pathways between early language and later social skills in a large, prospective cohort consisting of 3387 mother‐child dyads. Mediational pathways were examined between parent‐reported expressive language (at 2 years of age) and social skills (at 8 years of age), via core language and pragmatic language (at 5 years of age). The analyses accounted for biological and environmental factors known to be associated with language development (i.e., child sex at birth, child birthweight, family income, mother's level of education, primary language spoken in the home, and perinatal health factors). Results indicated that pragmatic language, but not core language, acted as a significant partial mediator in the pathway of interest. These results support a developmental chain from early expressive language in toddlerhood to subsequent social skills in middle childhood via pragmatic language skills around school entry. Implications for theory and practice, and limitations are reviewed.SummaryUsing a large prospective cohort study, we investigated developmental pathways between early language at 2 years and social skills at 8 years.Pragmatic language at age 5, but not core language, acted a significant partial mediator in pathway of interest.These results support a developmental chain from early expressive language in toddlerhood to social skills in middle childhood via pragmatic language skills around school entry.

La renovación es una de las características principales de los órganos de difusión, tanto en el ámbito de la divulgación como en el de las publicaciones científicas. En este sentido, el Comité Editorial de la Revista del Hospital Italiano no es una excepción. Tras casi una década al frente, me retiro de la Dirección de la Revista, permaneciendo como miembro del Comité Editorial. Despedirse de una función que se ha ejercido durante muchos años es difícil, especialmente cuando implica relaciones personales. Debo agradecer de manera especial a dos personas que me acompañaron a lo largo de este período: Norma Hernández y María del Rosario Revello (Charito), quienes se comportaron como colaboradoras insustituibles. Con ellas y otros colegas sostuvimos la ilusión de mantener una continuidad editorial, a pesar de las crisis que nos afectaron a todos los argentinos. Si bien apenas logramos cumplir con ese objetivo, hoy, con la colaboración de la Dirección Médica del Hospital Italiano y del Departamento de Docencia e Investigación, el Comité Editorial asegura la continuidad de la publicación. Durante nuestra gestión se marcaron varios hitos. Buscamos reflejar en la Revista las actividades que atraviesan a todo el Hospital, incluyendo tópicos significativos como ética –recordemos el número especial dedicado a las conferencias del Dr. Diego Gracia– y la serie de notas sobre investigación y diseño de estudios clínicos, publicadas antes de que la medicina basada en evidencia se convirtiera en estándar. Se creó un espacio para exponer avances científicos, muchos provenientes del actual Instituto de Ciencias Básicas y Medicina Experimental, y se incorporó una sección de actualización docente. La inclusión de las Guías de Cuidado merece mención especial, ya que establecen los lineamientos institucionales de diagnóstico y tratamiento. Otro logro destacado fue la publicación de dos Números Extraordinarios en la celebración de los 100 años de la Sede Gascón y los 150 años del Hospital, tareas confiadas a nosotros por el Dr. Enrique Caruso y realizadas con el apoyo de los Dres. Mario Sebastiani y Sung Ho Hyon, junto con muchos otros colaboradores. Este reconocimiento se extiende a todas las personas que, con desinterés y dedicación, destinan su tiempo para hacer posible esta publicación. Desde sus comienzos, la Revista se concibió como un espacio para mostrar la totalidad de la actividad del Hospital Italiano, con rigor científico avalado por un comité de evaluación, enfrentando las dificultades derivadas de la diversidad de la Institución. Este desafío continúa vigente, y no tengo dudas de que la respuesta superará nuestras expectativas. Gracias a todos los que confiaron en nosotros al remitirnos el fruto de su trabajo.

Este estudio de metodología mixta investiga la implementación de la Inteligencia Artificial Generativa (GenAI) en telemedicina, centrándose en la optimización del diagnóstico remoto y la adherencia terapéutica. Mediante una revisión sistemática, entrevistas a expertos y dos estudios experimentales, se valida que la GenAI actúa como un "copiloto" efectivo, mejorando la precisión diagnóstica de los médicos en un 15% y la eficiencia en un 30%, a la vez que los planes de cuidado generados por IA aumentan significativamente la adherencia y comprensión del paciente. Sin embargo, los hallazgos centrales identifican tres pilares críticos e interdependientes para una adopción responsable: Validación (requiriendo evidencia de beneficio clínico neto más allá de la precisión técnica), Ética (donde la explicabilidad se revela como un facilitador clínico, no solo un imperativo moral) e Implementación (que exige un rediseño de flujos de trabajo centrado en el humano). Se propone el Marco V-E-I, un modelo iterativo que integra estos pilares, argumentando que el éxito depende de avanzar en ellos de manera simultánea y equilibrada. La conclusión subraya que el futuro de la GenAI en salud no está garantizado por la tecnología, sino por la gobernanza responsable que priorice la seguridad, la equidad y la utilidad clínica real sobre la mera innovación.

Prior studies have mainly examined factors regarding COVID-19 vaccination intentions. This study investigated the factors associated with COVID-19 vaccination behaviors in Korean adults. A total of 620 adults recruited from a survey company between July and August 2021 completed an online survey asking about their personal characteristics, health beliefs, and COVID-19 vaccination status. The collected data were analyzed using descriptive statistics, Pearson's χ2 test, independent-samples t test, and logistic regression analysis. Less than half the participants received COVID-19 vaccinations, whereas 56.3% did not. The full regression model explained 33.3% of the variance in COVID-19 vaccination status. Age older than 60 years, perception of feeling healthy, presence of chronic diseases, past flu shot experiences, and five health belief model factors were significant factors associated with COVID-19 vaccination behaviors. COVID-19 vaccination intention was the most closely related factor (odds ratio, 12.37; 95% confidence interval, 3.54-43.26; P < .001). Vaccinated participants were more likely than unvaccinated to perceive susceptibility to COVID-19 infection, benefits, self-efficacy, moral responsibility, and subjective norms regarding COVID-19 vaccination. Based on the results, vaccinated and unvaccinated individuals showed different attitudes toward COVID-19 infection and vaccination. This study suggests that COVID-19 vaccination intentions lead to actual vaccination behavior.

ABSTRACT Knowledge, attitudes, and beliefs are important antecedents to HPV vaccination, yet remain suboptimal among young gay, bisexual, and other men who have sex with men (YGBMSM). We report the effects of a theoretically-informed, web-based HPV vaccination intervention on these cognitive outcomes. From 2019–2021, we recruited a national sample of YGBMSM ages 18–25 in the United States who were unvaccinated against HPV (n = 1,227). Participants received either standard HPV vaccination information online (control) or population-targeted, individually-tailored content online (Outsmart HPV intervention). Mixed effects models determined if pre-post changes in cognitive outcomes differed between study groups. For five of seven knowledge items about HPV, there were larger pre-post increases among the intervention group than the control group in the percentage of participants who provided correct responses (all statistically significant at p = .05 after Holm’s correction). There were also larger pre-post improvements among the intervention group than the control group for most attitudes and beliefs examined, including response efficacy of HPV vaccine (pre-post increases in means: 0.57 vs. 0.38); self-efficacy for the HPV vaccination process (pre-post increases in means: 0.23 vs. 0.10); and intention to get HPV vaccine (pre-post increases in means: 0.70 vs. 0.28) (all statistically significant at p = .05 after Holm’s correction). Outsmart HPV is a promising tool for improving key cognitive antecedents to HPV vaccination among YGBMSM, supporting the use of theoretically-informed interventions to affect such outcomes. If efficacious in increasing HPV vaccine uptake in future analyses, this intervention could be utilized in clinical and other healthcare settings that provide services to YGBMSM.

In June 2022, HDSR guest editors Maryann Martone and Richard Nakamura conducted an online interview with Dr. Lawrence Tabak, Acting Director of the National Institutes of Health (NIH) and Dr. Lyric Jorgenson, Acting Associate Director for Science Policy and the Acting Director of the Office of Science Policy at the NIH. The quartet talked about the importance of the new data management and sharing policy to the NIH and updates on the NIH’s activities and priorities since the April 2021 workshop on data management and sharing.

Although neurocognitive deficits have been documented in adolescents with suicidal ideation (SI) and suicide attempts (SA), it is unclear whether certain impairments differentiate these groups, potentially suggesting heightened risk for SA. Focus on specific facets of impulsivity and cognitive control may indicate distinctions between adolescents with SA vs. SI. The current study examined dimensions of impulsivity and cognitive control in 141 adolescents with SA (n = 41) vs. SI without SA (n = 49) vs. typically-developing controls (TDCs; n = 51). Adolescents completed cross-sectional neurocognitive tasks via the Cambridge Neuropsychological Testing Automated Battery, in addition to demographic and clinical measures. Analyses involved ANOVAs and ANCOVAs. Results indicated that adolescents with SA demonstrated less set shifting/cognitive flexibility (reduced ability to adapt to/disengage from stimuli) and greater impulsive decision making (reduced ability to collect/evaluate information before making decisions) compared to TDCs. In addition, both TDCs and adolescents with SA had greater response inhibition (increased ability to stop motor responses that have begun/become prepotent) than those with SI. Similar results were found when analyzing female adolescents separately. There were no significant differences for male adolescents, potentially due to the small subsample (n = 40). There were no significant findings for spatial planning/problem solving or visuospatial working memory. Findings suggest: 1) less set shifting/cognitive flexibility and greater impulsive decision making for adolescents with SA vs. TDCs; and 2) greater response inhibition for TDCs and adolescents with SA vs. SI. Such information may be useful for improving risk assessments (adding neurocognitive tasks) and targeted treatments (incorporating cognitive remediation) for this impaired population.