Recruitment feasibility and dietary and behavioral patterns in toddlers with ASD: Preliminary results from the Autism Eats program.

BACKGROUND: Problematic mealtime behaviors and inadequate diet quality are pressing concerns for children with autism spectrum disorder (ASD). This study aimed to evaluate recruitment feasibility and baseline outcomes of the Autism Eats program for children under 3 years with ASD. METHODS: Recruitment feasibility was assessed through reach and participation rates. The Healthy Eating Index (HEI-2015) scores were calculated from 3-day food records. Problematic mealtime behaviors were assessed with the Brief Autism Mealtime Behavior Inventory. Parental feeding practices were assessed using the Child Feeding Questionnaire. Anthropometric measurements of children and parents were taken. Weight-for-length percentiles were calculated based on the CDC growth charts. Descriptive statistics, one-sample t-tests, and Spearman's rho correlations were used for data analysis. RESULTS: Of the contacted dyads, 74 % agreed to participate. All 51 enrolled dyads completed baseline survey (100 %), and 98 % completed 3-day food records and anthropometric measurements. Significantly higher problematic mealtime behaviors were observed, compared to the reference (e.g., Total score 55.7 vs. 32.5; p < .001). Children with ASD exhibited lower HEI-2015 scores than national data (e.g., Total score 59 vs. 62). A large proportion of the children (29 %) had a weight-for-length ≥ 95th percentile. Several significant associations were found among mealtime behaviors, diet quality, parental feeding practices, and weight status. CONCLUSION: Recruitment was highly feasible, and the findings suggest that early nutrition intervention may hold promise in addressing problematic mealtime behaviors and promoting healthier dietary habits in young children with ASD. CLINICAL TRIAL REGISTRATION: This trial has been registered at www. CLINICALTRIALS: gov (NCT05194345).

Composites formed by layered double hydroxides with inorganic compounds: An overview of the synthesis methods and characteristics.

Nowadays, layered double hydroxides (LDH), sometimes referred as hydrotalcite-like compounds, have gained great attention since their composition and structure can be easily modified, so that they can be implemented in multiple fields. LDH-based composite materials based on LDH exhibit tremendously improved properties such as high specific surface area, which promotes the accessibility to a greater number of LDH active sites, considerably improving their catalytic, adsorbent and biological activities. Therefore, this review summarizes and discusses the synthesis methods of composites constituted by LDH with other inorganic compounds such as zeolites, cationic clays, hydroxyapatites, among many others, and describe the resulting characteristics of the resulting composites, emphasizing the morphology. Brief descriptions of their properties and applications are also included.

BMI and mortality in critically ill patients with COVID-19: another brick in the wall of the obesity paradox.

OBJECTIVE: The objective of this study was to assess the existence of the obesity paradox in patients with COVID-19 admitted to the intensive care unit. METHODS: This was a multicentric retrospective cohort study including individuals aged 18 years or older admitted to the intensive care unit with SARS-CoV-2. Data were obtained from electronic medical records. The primary outcome was in-hospital mortality. Multiple logistic regression and restricted cubic splines analyses were conducted to assess the association between BMI and mortality. RESULTS: From March 2020 to December 2021, 977 patients met the inclusion criteria, and 868 were included in the analysis. Obesity was identified in 382 patients (44%). Patients with obesity more often underwent prone positioning (42% vs. 28%; p < 0.001), although they used less vasoactive medications (57% vs. 68%; p < 0.001). The overall in-hospital mortality was 48%, with 44% observed in the subgroup of individuals with obesity and 50% in those without obesity (p = 0.06). Patients with BMI < 25 kg/m2 had the highest mortality. CONCLUSIONS: Obesity was not associated with higher mortality rates in critically ill patients with COVID-19. Moreover, patients with BMI < 25 kg/m2 had a higher mortality rate compared with those in higher BMI categories.

Southern Region Produce Safety Alliance Grower Training: Using Pre- and Post-Training Knowledge Assessments to Understand Training Effectiveness.

The Produce Safety Alliance (PSA) grower training was introduced in 2016 as the standardized curriculum to meet the training requirements of the Food and Drug Administration's (FDA) Food Safety Modernization Act's (FSMA) Produce Safety Rule (PSR). The PSR states that at least one supervisor or responsible party from each farm must have successfully completed this food safety training or one equivalent to the standardized curriculum, as recognized by the FDA. This study evaluated the effectiveness of PSA trainings conducted between 2017 and 2019 in the Southern United States by the Southern Regional Center for Food Safety Training, Outreach, and Technical Assistance by analyzing pre- and posttest assessments. Effectiveness was based on a 25-question knowledge assessment administered to participants before (n = 2494) and after (n = 2460) each training. The knowledge assessment indicated the overall effectiveness of the training, with average scores increasing significantly from pretest (15.9/25, 63.4%) to posttest (20.3/25, 81.3%) (P < 0.001). The greatest knowledge gains were seen in the Postharvest Handling and Sanitation, How to Develop a Farm Food Safety Plan, and Agricultural Water modules. Notably, these modules had lower posttest scores compared to the other modules, indicating that the amount of knowledge gained did not necessarily correspond with a sufficient understanding of the material. To ensure that participants understand all aspects of the PSR and best practices to minimize food safety risks, additional or advanced trainings may be needed. Additionally, the current testing instrument (pre-/posttest) used for PSA grower training, while validated, may not be optimal, thus alternative methods to assess the training effectiveness are likely needed.

SARS-CoV-2's brain impact: revealing cortical and cerebellar differences via cluster analysis in COVID-19 recovered patients.

BACKGROUND: COVID-19 is a disease known for its neurological involvement. SARS-CoV-2 infection triggers neuroinflammation, which could significantly contribute to the development of long-term neurological symptoms and structural alterations in the gray matter. However, the existence of a consistent pattern of cerebral atrophy remains uncertain. OBJECTIVE: Our study aimed to identify patterns of brain involvement in recovered COVID-19 patients and explore potential relationships with clinical variables during hospitalization. METHODOLOGY: In this study, we included 39 recovered patients and 39 controls from a pre-pandemic database to ensure their non-exposure to the virus. We obtained clinical data of the patients during hospitalization, and 3 months later; in addition we obtained T1-weighted magnetic resonance images and performed standard screening cognitive tests. RESULTS: We identified two groups of recovered patients based on a cluster analysis of the significant cortical thickness differences between patients and controls. Group 1 displayed significant cortical thickness differences in specific cerebral regions, while Group 2 exhibited significant differences in the cerebellum, though neither group showed cognitive deterioration at the group level. Notably, Group 1 showed a tendency of higher D-dimer values during hospitalization compared to Group 2, prior to p-value correction. CONCLUSION: This data-driven division into two groups based on the brain structural differences, and the possible link to D-dimer values may provide insights into the underlying mechanisms of SARS-COV-2 neurological disruption and its impact on the brain during and after recovery from the disease.

The Impact of Weighted Blanket Use on Adults with Sensory Sensitivity and Insomnia.

Purpose: This study's purpose was to determine the impact of weighted blanket use on moderate to severe insomnia in adults with sensory sensitivity greater than the average population. Methods: For this study, a four-week, single-case, multiple-participant ABA study design was used. Through convenience sampling, four participants scoring 15 or greater on the Insomnia Severity Index (ISI), which categorizes them as having moderate to severe insomnia, and much more than most people in sensory sensitivity on the Adolescent/Adult Sensory Profile were recruited. First, seven-day baseline sleep data was gathered, followed by two weeks of weighted blanket use, concluding with a seven-day withdrawal phase. Additional outcome measures included: Tuck and Snooze Survey, Consensus Sleep Diary Morning, and Additional Sleep Diary Questions. Data analysis included visual analysis, mean comparisons, Tau-U calculations, and pre- to post-ISI category comparisons. Results: All participants' ISI scores were categorized as one level less severe postintervention. All participants demonstrated increased sleep quality, and three participants showed an increase in sleep duration based on individual mean comparisons between baseline and intervention phases. Conclusion: Weighted blankets appear beneficial in reducing insomnia severity in adults with much more than the average population sensory sensitivity. In addition, those with self-reported anxiety may have increased benefit from this intervention.

Autonomía en actividades profesionales confiables luego de la pandemia por COVID-19: perspectivas de residentes y docentes / Autonomy in entrustable professional activities after the COVID-19 pandemic: the perspectives of residents and teachers

Introducción. Las actividades profesionales confiables (APROC) son 13 actividades que los médicos recién graduados deberían poder realizar sin supervisión directa. Nuestro objetivo fue evaluar la percepción de residentes y docentes acerca de la autonomía para realizar las APROC, luego de 2 años del inicio de la pandemia. Materiales y métodos. Estudio de corte transversal, que incluyó residentes de primer año de especialidades clínicas y quirúrgicas, y sus docentes. Se enviaron cuestionarios electrónicos y anónimos. Resultados. Se incluyeron 31 residentes y 20 docentes. La mayoría de los residentes creía que podía realizar en forma autónoma 8 de las 13 APROC. Para la mayoría de los docentes, los residentes requerían supervisión directa para 11 de las 13 actividades. Se observaron diferencias significativas entre la percepción de residentes y docentes en 8 de las 13 APROC. Conclusión. La percepción de autonomía para realizar las APROC al inicio de la residencia fue considerablemente mayor en residentes que en sus docentes.

Introduction. The entrustable professional activities (EPAs) are 13 activities that new medical graduates should be able to perform without direct supervision. Our objective was to assess the perceptions of residents and teachers regarding their autonomy to perform the EPAs 2 years after the onset of the COVID-19 pandemic. Materials and methods. Cross-sectional study of first-year residents of clinical and surgical specialties and their teachers. Electronic, anonymous questionnaires were used. Results. Subjects were 31 residents and 20 teachers. Most residents believed that they were able to perform 8 of the 13 EPAs independently. According to most teachers, residents required direct supervision to perform 11 of the 13 EPAs. Significant differences were observed between residents' and teachers' perceptions in 8 of the 13 EPAs. Conclusion. The perception of autonomy to perform the EPAs in the beginning of the residency program was considerably better among residents than their teachers.

Autonomy in entrustable professional activities after the COVID-19 pandemic: the perspectives of residents and teachers. / Autonomía en actividades profesionales confiables luego de la pandemia por COVID-19: perspectivas de residentes y docentes.

Introduction. The entrustable professional activities (EPAs) are 13 activities that new medical graduates should be able to perform without direct supervision. Our objective was to assess the perceptions of residents and teachers regarding their autonomy to perform the EPAs 2 years after the onset of the COVID-19 pandemic. Materials and methods. Cross-sectional study of first-year residents of clinical and surgical specialties and their teachers. Electronic, anonymous questionnaires were used. Results. Subjects were 31 residents and 20 teachers. Most residents believed that they were able to perform 8 of the 13 EPAs independently. According to most teachers, residents required direct supervision to perform 11 of the 13 EPAs. Significant differences were observed between residents' and teachers' perceptions in 8 of the 13 EPAs. Conclusion. The perception of autonomy to perform the EPAs in the beginning of the residency program was considerably better among residents than their teachers.

Introducción. Las actividades profesionales confiables (APROC) son 13 actividades que los médicos recién graduados deberían poder realizar sin supervisión directa. Nuestro objetivo fue evaluar la percepción de residentes y docentes acerca de la autonomía para realizar las APROC, luego de 2 años del inicio de la pandemia. Materiales y métodos. Estudio de corte transversal, que incluyó residentes de primer año de especialidades clínicas y quirúrgicas, y sus docentes. Se enviaron cuestionarios electrónicos y anónimos. Resultados. Se incluyeron 31 residentes y 20 docentes. La mayoría de los residentes creía que podía realizar en forma autónoma 8 de las 13 APROC. Para la mayoría de los docentes, los residentes requerían supervisión directa para 11 de las 13 actividades. Se observaron diferencias significativas entre la percepción de residentes y docentes en 8 de las 13 APROC. Conclusión. La percepción de autonomía para realizar las APROC al inicio de la residencia fue considerablemente mayor en residentes que en sus docentes.

Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.

As an aneuploidy, trisomy is associated with mammalian embryonic and postnatal abnormalities. Understanding the underlying mechanisms involved in mutant phenotypes is broadly important and may lead to new strategies to treat clinical manifestations in individuals with trisomies, such as trisomy 21 [Down syndrome (DS)]. Although increased gene dosage effects because of a trisomy may account for the mutant phenotypes, there is also the possibility that phenotypic consequences of a trisomy can arise because of the presence of a freely segregating extra chromosome with its own centromere, i.e. a 'free trisomy' independent of gene dosage effects. Presently, there are no reports of attempts to functionally separate these two types of effects in mammals. To fill this gap, here we describe a strategy that employed two new mouse models of DS, Ts65Dn;Df(17)2Yey/+ and Dp(16)1Yey/Df(16)8Yey. Both models carry triplications of the same 103 human chromosome 21 gene orthologs; however, only Ts65Dn;Df(17)2Yey/+ mice carry a free trisomy. Comparison of these models revealed the gene dosage-independent impacts of an extra chromosome at the phenotypic and molecular levels for the first time. They are reflected by impairments of Ts65Dn;Df(17)2Yey/+ males in T-maze tests when compared with Dp(16)1Yey/Df(16)8Yey males. Results from the transcriptomic analysis suggest the extra chromosome plays a major role in trisomy-associated expression alterations of disomic genes beyond gene dosage effects. This model system can now be used to deepen our mechanistic understanding of this common human aneuploidy and obtain new insights into the effects of free trisomies in other human diseases such as cancers.

Association between prolonged corticosteroids use in COVID-19 and increased mortality in hospitalized patients: a retrospective study with inverse probability of treatment weighting analysis.

BACKGROUND: Previous studies have demonstrated a beneficial effect of early use of corticosteroids in patients with COVID-19. This study aimed to compare hospitalized patients with COVID-19 who received short-course corticosteroid treatment with those who received prolonged-course corticosteroid treatment to determine whether prolonged use of corticosteroids improves clinical outcomes, including mortality. METHODS: This is a retrospective cohort study including adult patients with positive testing for Sars-CoV-2 hospitalized for more than 10 days. Data were obtained from electronic medical records. Patients were divided into two groups, according to the duration of treatment with corticosteroids: a short-course (10 days) and a prolonged-course (longer than 10 days) group. Inverse probability treatment weighting (IPTW) analysis was used to evaluate whether prolonged use of corticosteroids improved outcomes. The primary outcome was in-hospital mortality. Secondary outcomes were hospital infection and the association of different doses of corticosteroids with hospital mortality. Restricted cubic splines were used to assess the nonlinear association between mortality and dose and duration of corticosteroids use. RESULTS: We enrolled 1,539 patients with COVID-19. Among them, 1127 received corticosteroids for more than 10 days (prolonged-course group). The in-hospital mortality was higher in patients that received prolonged course corticosteroids (39.5% vs. 26%, p < 0.001). The IPTW revealed that prolonged use of corticosteroids significantly increased mortality [relative risk (RR) = 1.52, 95% confidence interval (95% CI): 1.24-1.89]. In comparison to short course treatment, the cubic spline analysis showed an inverted U-shaped curve for mortality, with the highest risk associated with the prolonged use at 30 days (RR = 1.50, 95% CI 1.21-1.78). CONCLUSIONS: Prolonged course of treatment with corticosteroids in hospitalized patients with COVID-19 was associated with higher mortality.

Superwoman Schema and John Henryism among African American women: An intersectional perspective on coping with racism.

RATIONALE: John Henryism and Superwoman Schema (SWS) are dispositional characteristics adopted to overcome the challenges of chronic psychosocial stress, and have particular salience for African American women. Both show protective and harmful effects on health and share conceptual similarities and distinctions, yet there is no empirical evidence of the potential overlap resulting in uncertainty about the unique roles they may each play concerning the health of African American women. OBJECTIVE: We examined: 1) whether and to what extent John Henryism and SWS represent similar or distinct constructs relevant to the unique sociohistorical and sociopolitical position of African American women, and 2) whether the two differentially predict health outcomes. METHODS: Data are from a purposive and socioeconomically diverse sample of 208 African American women in the San Francisco Bay Area. First, we conducted a progressive series of tests to systematically examine the conceptual and empirical overlap between John Henryism and SWS: correlation analysis, exploratory factor analysis (EFA), principal component analysis and k-modes cluster analysis. Next, we used multivariable regression to examine associations with psychological distress and hypertension. RESULTS: John Henryism and SWS were moderately correlated with one another (rs = 0.30-0.48). In both EFA and cluster analyses, John Henryism items were distinct from SWS subscale items. For SWS, feeling an obligation to present an image of strength and an obligation to help others predicted higher odds of hypertension (p < 0.05); having an intense motivation to succeed predicted lower odds (p = 0.048). John Henryism did not predict hypertension. Feeling an obligation to help others and an obligation to suppress emotions predicted lower levels of psychological distress (p < 0.05) whereas John Henryism predicted higher distress (p = 0.002). CONCLUSIONS: We discuss the implications of these findings for the measurement of culturally specific phenomena and their role in contributing to the unequal burden of ill health among African American women.

Efficacy and Safety of Erenumab, Galcanezumab, and Fremanezumab in the Treatment of Drug-Resistant Chronic Migraine: Experience in Real Clinical Practice.

BACKGROUND: Due to the recent introduction of new biologic drugs for chronic migraine, a global evaluation in real clinical practice is necessary. OBJECTIVE: The objective was to evaluate the effectiveness and safety in real clinical practice of drugs targeting the calcitonin gene-related peptide receptor (CGRPr) in patients with chronic migraine. METHODS: Single-center, restrospective study (2019-2022), including patients with chronic migraine treated with erenumab, galcanezumab, or fremanezumab. Effectiveness variables were recorded, namely, number of migraine headache days per month (MHD), Migraine Disability Assessment Scale (MIDAS) score, and Headache Impact Test-6 (HIT-6) score, assessing changes at week 12, 24 from baseline. Toxicity was recorded following the Common Terminology Criteria for Adverse Events (CTCAE) v5.0 criteria. RESULTS: In all, 104 patients were included (46.2% erenumab, 41.3% galcanezumab, 12.5% fremanezumab). A reduction in MHD, MIDAS, and HIT-6 was achieved at weeks 12 and 24 with erenumab (p75% at week 24 than those intensified; P = 0.041). There was no difference in efficacy (P = 0.154) or improvement in quality of life (P = 0.783, P = 0.150), but there was greater toxicity (P < 0.001) among nonresponders with erenumab 70 mg versus erenumab 140 mg. CONCLUSIONS: The results confirm the effectiveness and safety of anticalcitonin gene-related peptide (CGRP) drugs in real clinical practice. However, the study shows little benefit from erenumab intensification, with similar effectiveness and worse tolerability than the standard dose.

Virtual interviews for admission to health care residency programs during the COVID-19 pandemic. / Entrevistas virtuales para el ingreso a residencias de profesionales de la salud durante la pandemia por COVID-19.

INTRODUCTION: The COVID-19 pandemic forced residency programs to adapt their selection processes. Our objective was to describe the experience of virtual interviews conducted to select residents through applicants' perception. POPULATION AND METHODS: An electronic questionnaire was sent to health care residency applicants after their interviews conducted in 2020. RESULTS: Two-hundred and twenty-one questionnaires were collected and the average distance to the facility was 163 km. Also, 67.9% of the applicants used a personal computer, 98.2% felt that they were treated appropriately, 77.8% were able to state their ideas, and 12.2% reported technical difficulties. In addition, 32.6% said that they would prefer virtual interviews for future selection processes and 17.6%, that it would be irrelevant. CONCLUSIONS: Virtual interviews allowed the resident selection process to be completed; one third of applicants would prefer virtual interviews in the future and there were no apparent technological limitations.

Introducción. La pandemia por COVID-19 obligó a los sistemas de residencias a adaptar sus procesos de selección. Nuestro objetivo fue describir la experiencia de virtualización de las entrevistas de selección de residentes a través de la percepción de las personas aspirantes. Población y métodos. Se envió un cuestionario electrónico a las personas aspirantes de residencias para profesionales de la salud luego de las entrevistas en 2020. Resultados. Se obtuvieron 221 respuestas y la distancia promedio a la institución fue 163 km. El 67,9 % de los aspirantes utilizaron computadora personal; el 98,2 % percibió un trato apropiado; el 77,8 % pudo expresar sus ideas, y el 12,2 % manifestó dificultades técnicas. El 32,6 % refirió que, para próximos procesos de selección, preferiría entrevistas virtuales y al 17,6 % le sería indistinto. Conclusiones. Las entrevistas virtuales permitieron completar el proceso de selección de residentes; un tercio preferiría entrevistas virtuales en el futuro y no hubo limitaciones tecnológicas evidentes.

Entrevistas virtuales para el ingreso a residencias de profesionales de la salud durante la pandemia por COVID-19 / Virtual interviews for admission to health care residency programs during the COVID-19 pandemic

Introducción. La pandemia por COVID-19 obligó a los sistemas de residencias a adaptar sus procesos de selección. Nuestro objetivo fue describir la experiencia de virtualización de las entrevistas de selección de residentes a través de la percepción de las personas aspirantes. Población y métodos. Se envió un cuestionario electrónico a las personas aspirantes de residencias para profesionales de la salud luego de las entrevistas en 2020. Resultados. Se obtuvieron 221 respuestas y la distancia promedio a la institución fue 163 km. El 67,9 % de los aspirantes utilizaron computadora personal; el 98,2 % percibió un trato apropiado; el 77,8 % pudo expresar sus ideas, y el 12,2 % manifestó dificultades técnicas. El 32,6 % refirió que, para próximos procesos de selección, preferiría entrevistas virtuales y al 17,6 % le sería indistinto. Conclusiones. Las entrevistas virtuales permitieron completar el proceso de selección de residentes; un tercio preferiría entrevistas virtuales en el futuro y no hubo limitaciones tecnológicas evidentes.

Introduction. The COVID-19 pandemic forced residency programs to adapt their selection processes. Our objective was to describe the experience of virtual interviews conducted to select residents through applicants' perception. Population and methods. An electronic questionnaire was sent to health care residency applicants after their interviews conducted in 2020. Results. Two-hundred and twenty-one questionnaires were collected and the average distance to the facility was 163 km. Also, 67.9% of the applicants used a personal computer, 98.2% felt that they were treated appropriately, 77.8% were able to state their ideas, and 12.2% reported technical difficulties. In addition, 32.6% said that they would prefer virtual interviews for future selection processes and 17.6%, that it would be irrelevant. Conclusions. Virtual interviews allowed the resident selection process to be completed; one third of applicants would prefer virtual interviews in the future and there were no apparent technological limitations.

Frontostriatal Circuits Alterations Associated with Cognitive Flexibility Deterioration in Huntington's Disease.

BACKGROUND: Recent resting-state functional magnetic resonance imaging studies have reported abnormal functional connectivity (FC) in the prefrontal cortex (PFC)-striatum circuit in patients with premanifest Huntington's disease (HD). However, there is a lack of evidence showing persistence of abnormal frontostriatal FC and its relation to cognitive flexibility performance in patients with clinically manifest HD. OBJECTIVE: The aim of this study was to evaluate the resting-state FC integrity of the frontostriatal circuit and its relation to cognitive flexibility in HD patients and healthy controls (HCs). METHOD: Eighteen patients with early clinical HD manifestation and 18 HCs matched for age, sex, and education participated in this study. Both groups performed the Cambridge Neuropsychological Test Automated Battery (CANTAB) Intra-Extra Dimensional (IED) set-shift task, which measures cognitive flexibility. Resting-state functional magnetic resonance images were also acquired to examine the FC in specific frontostriatal circuits. Eight regions of interest were preselected based on regions previously associated with extradimensional (ED) shifting in patients with premanifest HD. RESULTS: Significant negative correlations between the number of attentional set-shifting errors and the ventral striatum-ventrolateral PFC FC were found in the HD group. This group also showed negative FC correlations between the total errors and the FC between right ventral striatum-right ventrolateral PFC, left ventral striatum-left ventrolateral PFC, and right ventral striatum-left ventrolateral PFC. Negative correlations between the ED errors and left ventral striatum-left ventrolateral PFC and right ventral striatum-right ventrolateral PFC FC were also found. Finally, a positive correlation between the number of stages completed and left ventral striatum-left ventrolateral PFC FC was found. CONCLUSIONS: Manifest HD patients show significant cognitive flexibility deficits in attentional set-shifting that are associated with FC alterations in the frontostriatal circuit. These results show that FC abnormalities found in the prodromal stage of the disease can also be associated with cognitive flexibility deficits at a later clinical stage, making them good candidates to be explored in longitudinal studies.

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat expansion, when fully penetrant, has a size of 850-4,500 repeats. It has been shown that the repeat composition can be a modifier of disease, e.g., seizures. Here, we describe a Mexican kindred in which we identified both pure (ATTCT)n and mixed (ATTCT)n-(ATTCC)n expansions in the same family. We used amplification-free targeted sequencing and optical genome mapping to decipher the composition of these repeat expansions. We found a considerable degree of mosaicism of the repeat expansion. This mosaicism was confirmed in skin fibroblasts from individuals with ATXN10 expansions with RNAScope in situ hybridization. All affected family members with the mixed ATXN10 repeat expansion showed typical clinical signs of spinocerebellar ataxia and epilepsy. In contrast, individuals with the pure ATXN10 expansion present with Parkinson's disease or are unaffected, even in individuals more than 20 years older than the average age at onset for SCA10. Our findings suggest that the pure (ATTCT)n expansion is non-pathogenic, while repeat interruptions, e.g., (ATTCC)n, are necessary to cause SCA10. This mechanism has been recently described for several other repeat expansions including SCA31 (BEAN1), SCA37 (DAB1), and three loci for benign adult familial myoclonic epilepsy BAFME (SAMD12, TNRC6A, RAPGEF2). Therefore, long-read sequencing and optical genome mapping of the entire genomic structure of repeat expansions are critical for clinical practice and genetic counseling, as variations in the repeat can affect disease penetrance, symptoms, and disease trajectory.

Exploración de las percepciones de género en adolescentes / Exploration of gender perceptions among adolescents

Introducción. La expresión del género y laidentidad sexual no siempre coinciden con el sexo asignado al nacer. Nos propusimos como objetivo explorar las percepciones de género en adolescentes que consultaron en un hospital universitario de la comunidad. Población y métodos. Se diseñó un estudio de corte transversal. Se realizó una encuesta anónima en la sala de espera a los pacientes de 13 a 20 años que se atendieron en los consultorios externos de adolescencia entre abril y diciembre del 2019. Resultados. Respondieron la encuesta 834 adolescentes y el promedio de edad de los encuestados fue de 16,3 ± 2,3 años. El 3,3 % de los adolescentes (2,9 % mujeres y 4,3 % varones) se percibieron con una identidad de género diferente a su sexo de nacimiento. El 26 % no percibió su orientación sexual en términos heteronormativos, casi el 10 % se sintió discriminado por su orientación sexual, y esto estuvo asociado a la orientación sexual no heteronormativa (p <0,0001). Las adolescentes mujeres besaron en la boca a personas del mismo sexo en mayor medida que los varones, 44,8 % versus 19 % (p <0,0001). Conclusiones. El 3,3 % de la población adolescente se percibió con una identidad de género diferente al sexo de nacimiento y el 26 % tuvo una orientación sexual no heteronormativa.

Introduction. Gender expression and sexual identity are not always the same as the sex assigned at birth. Our objective was to explore gender perceptions among adolescents who attended a teaching hospital in the Autonomous City of Buenos Aires. Population and methods. This was a cross- sectional study. An anonymous survey was administered to patients aged 13-20 years at the waiting room of the outpatient adolescent clinic between April and December 2019. Results. A total of 834 adolescents completed the survey; their average age was 16.3 ± 2.3 years. Among them, 3.3% (2.9% females and 4.3% males) perceived their gender identity as different from their sex assigned at birth; 26% perceived their sexual orientation was not heteronormative; almost 10% experienced discrimination due to their sexual orientation; and this was associated with a non-heteronormative sexual orientation (p < 0.0001). Female adolescents kissed same sex persons on the mouth more often than male adolescents: 44.8% versus 19% (p < 0.0001). Conclusions. In this population of adolescents, 3.3% perceived their gender identity was different from their sex assigned at birth and 26% had a non-heteronormative sexual orientation.

Exploration of gender perceptions among adolescents. / Exploración de las percepciones de género en adolescentes.

INTRODUCTION: Gender expression and sexual identity are not always the same as the sex assigned at birth. Our objective was to explore gender perceptions among adolescents who attended a teaching hospital in the Autonomous City of Buenos Aires. MATERIAL AND METHODS: This was a cross-sectional study. An anonymous survey was administered to patients aged 13-20 years at the waiting room of the outpatient adolescent clinic between April and December 2019. RESULTS: A total of 834adolescents completed the survey; their average age was 16.3 ± 2.3 years. Among them, 3.3% (2.9% females and 4.3% males) perceived their gender identity as different from their sex assigned at birth; 26% perceived their sexual orientation was not heteronormative; almost 10% experienced discrimination due to their sexual orientation; and this was associated with a non-heteronormative sexual orientation (p < 0.0001). Female adolescents kissed same sex persons on the mouth more often than male adolescents: 44.8% versus 19% (p < 0.0001). CONCLUSIONS: In this population of adolescents, 3.3% perceived their gender identity was different from their sex assigned at birth and 26% had a non-heteronormative sexual orientation.

Introducción. La expresión del género y la identidad sexual no siempre coinciden con el sexo asignado al nacer. Nos propusimos como objetivo explorar las percepciones de género en adolescentes que consultaron en un hospital universitario de la comunidad. Población y métodos. Se diseñó un estudio de corte transversal. Se realizó una encuesta anónima en la sala de espera a los pacientes de 13 a 20 años que se atendieron en los consultorios externos de adolescencia entre abril y diciembre del 2019. Resultados. Respondieron la encuesta 834 adolescentes y el promedio de edad de los encuestados fue de 16,3 ± 2,3 años. El 3,3 % de los adolescentes (2,9 % mujeres y 4,3 % varones) se percibieron con una identidad de género diferente a su sexo de nacimiento. El 26 % no percibió su orientación sexual en términos heteronormativos, casi el 10 % se sintió discriminado por su orientación sexual, y esto estuvo asociado a la orientación sexual no heteronormativa (p< 0,0001). Las adolescentes mujeres besaron en la boca a personas del mismo sexo en mayor medida que los varones, 44,8 % versus 19 % (p<0,0001). Conclusiones. El 3,3 % de la población adolescente se percibió con una identidad de género diferente al sexo de nacimiento y el 26 % tuvo una orientación sexual no heteronormativa.

Lifestyle and Self-Perceived Quality of Life in Sports Students: A Case Study.

Adolescence has been considered a crucial stage for the adoption of healthy habits such as physical activity. In addition, numerous research studies have shown that physical activity is a positive factor for health behaviors and quality of life. In this sense, the aim of this study was to examine the relationship between physical activity levels and perceived quality of life in a sample of students studying physical activity and sport. This is a descriptive observational study with a population of physical activity and sports students from the San Pablo High School in Seville, Spain. The participants (N = 86), with a mean age of 18.56 ± 1.88 years, were pursuing professional qualifications in Physical Activity and Sport. They were administered the short version of the International Physical Activity Questionnaire (IPAQ-SF) and the SF-36 questionnaire on perceived health status. For data analysis, a correlation analysis (Spearman's rho) was performed. The results indicate that students attending sports-related vocational training programs engaged in more physical activity (96.9%) than the population average suggested by the World Health Organization (20%). In addition, a direct relationship was shown between participating in physical activity and perceived health. Depending on the intensity of the physical activity, students found less physical interference (IPAQ Vigorous-Physical Function (rho = 0.252; p = 0.019); IPAQ Sedentary-Bodily Pain (rho = 0. 223; p < 0.039); IPAQ Total-Physical Function (rho = 0.256; p = 0.018)) and emotional interference (IPAQ Moderate-Emotional Role (rho = 0.237; p = 0.028)) when performing exercise or activities of daily life; therefore, physical activity appears to be beneficial for self-perception of quality of life.