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1.
Preprint in Spanish | SciELO Preprints | ID: pps-9264

ABSTRACT

With the advent of learning and knowledge technologies (LKT), the role of the teacher evolved from instructor to facilitator, and the student went from being a mere receiver to a creator. One of the technologies that has significantly transformed all aspects of everyday life, including education, is artificial intelligence (AI). In the educational environment, especially in higher education, new tools are made available capable of transforming the traditional processes of teaching and learning and with it, the development of students' competencies. This study offers a perspective on the use of LKT and AI in the nursing career, as well as its implications in teaching, based on scientific literature and the experience developed in the institution. The authors' experience with its use as part of the research projects "Innovative bimodal teaching for the development of generic competencies in university students" and "Bimodal teaching system for the development of learning and knowledge technologies" is described. which is part of the research program "Curriculum, innovation, education and training". The advantages of its use are shown, and the important ethical and practical challenges are reflected. The authors aim to provide valuable information on how technological and artificial intelligence tools can be successfully incorporated into the educational environment to develop specific and transversal competencies in university students, while promoting responsible and ethical use. The authors consider that the use of artificial intelligence in higher education should not be prohibited, but that its use should be regulated through policies that promote ethical and responsible use and that, in addition, teachers and students should be taught and taught to read and write about the proper use of this powerful tool, which would help in the teaching and learning process and the development of competencies.


Con la llegada de las tecnologías del aprendizaje y el conocimiento (TAC), el rol del docente evolucionó de instructor a facilitador, y el estudiante pasó de ser un mero receptor a un creador. Una de las tecnologías que ha transformado significativamente todos los aspectos de la vida cotidiana, incluyendo la educación, es la inteligencia artificial (IA). En el entorno educativo, especialmente en la enseñanza superior, se ponen a disposición nuevas herramientas capaces de transformar los procesos tradicionales de enseñanza y aprendizaje y con ello, el desarrollo de competencias del estudiantado. Este estudio ofrece una perspectiva sobre el uso de TAC e IA en la carrera de enfermería, así como sus implicaciones en la enseñanza, basándose en literatura científica y la experiencia desarrollada en la institución. Se describe la experiencia de los autores con su uso como parte de los proyectos de investigación "Enseñanza bimodal innovadora para el desarrollo de competencias genéricas en estudiantes universitarios" y "Sistema de enseñanza bimodal para el desarrollo de tecnologías del aprendizaje y el conocimiento", los cuales se enmarcan en el programa de investigación "Currículo, innovación, educación y formación". Se muestran las ventajas de su uso, y se reflexiona sobre los importantes desafíos éticos y prácticos. Los autores pretenden proporcionar información valiosa sobre cómo las herramientas tecnológicas y de inteligencia artificial pueden incorporarse con éxito al entorno educativo para desarrollar competencias específicas y transversales en los estudiantes universitarios, promoviendo al mismo tiempo un uso responsable y ético. Los autores consideran que no se debe prohibir el uso de la inteligencia artificial en la enseñanza superior, sino que se debe regular su uso mediante políticas que promuevan el uso ético y responsable y que, además, se alfabetice a docentes y estudiantes sobre el uso adecuado de esta poderosa herramienta, lo cual ayudaría en el proceso de enseñanza y aprendizaje y el desarrollo de competencias.


Com o advento das tecnologias de aprendizagem e conhecimento (TAC), o papel do professor evoluiu de instrutor para facilitador, e o aluno passou de mero receptor a criador. Uma das tecnologias que tem transformado significativamente todos os aspectos do dia a dia, inclusive a educação, é a inteligência artificial (IA). No ambiente educacional, especialmente no ensino superior, são disponibilizadas novas ferramentas capazes de transformar os processos tradicionais de ensino e aprendizagem e, com isso, o desenvolvimento das competências dos alunos. Este estudo oferece uma perspectiva sobre o uso da TAC e da IA na carreira de enfermagem, bem como suas implicações no ensino, com base na literatura científica e na experiência desenvolvida na instituição. Descreve-se a experiência dos autores com sua utilização como parte dos projetos de pesquisa "Ensino bimodal inovador para o desenvolvimento de competências genéricas em estudantes universitários" e "Sistema de ensino bimodal para o desenvolvimento de tecnologias de aprendizagem e conhecimento". que fazem parte do programa de pesquisa "Currículo, inovação, educação e treinamento". As vantagens de seu uso são mostradas, e os importantes desafios éticos e práticos são refletidos. Os autores pretendem fornecer informações valiosas sobre como ferramentas tecnológicas e de inteligência artificial podem ser incorporadas com sucesso ao ambiente educacional para desenvolver competências específicas e transversais em estudantes universitários, promovendo o uso responsável e ético. Os autores consideram que o uso da inteligência artificial no ensino superior não deve ser proibido, mas que seu uso deve ser regulamentado por meio de políticas que promovam o uso ético e responsável e que, além disso, professores e alunos devem ser ensinados e ensinados a ler e escrever sobre o uso adequado dessa poderosa ferramenta, o que ajudaria no processo de ensino e aprendizagem e no desenvolvimento de competências.

3.
Am J Primatol ; 86(7): e23638, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38715239

ABSTRACT

Phenolics, like tannins, are plant-specialized metabolites that play a protective role against herbivory. Tannins can reduce palatability and bind with proteins to reduce digestibility, acting as deterrents to feeding and impacting nutrient extraction by herbivores. Some assays measure tannin and total phenolics content in plants but lack determination of their biological effects, hindering the interpretation of tannin function in herbivory and its impacts on animal behavior and ecology. In this study, we successfully applied the radial diffusion assay to assess tannin protein precipitation (PP) capacity and evaluate the anti-nutritional effects of tannins in food plants (n = 24) consumed by free-ranging black howler monkeys (Alouatta pigra) in Tabasco, Mexico. We found PP rings in five plant species consumed by the monkeys. The mature fruit of Inga edulis was the most consumed food plant, despite having a high tannin PP capacity (56.66 mg tannic acid equivalent/g dry matter). These findings highlight the presence of tannins in the black howler diet and provide insight into the primates' resilience and potential strategies for coping with anti-nutritional aspects of the diet.


Subject(s)
Alouatta , Diet , Food Preferences , Tannins , Animals , Tannins/analysis , Alouatta/physiology , Diet/veterinary , Mexico , Male , Female
5.
Article in English | MEDLINE | ID: mdl-38552315

ABSTRACT

OBJECTIVE: To investigate the safety and efficacy of subcutaneous tocilizumab (SC-TCZ) treatment in a long-term extension (LTE) of clinical trials in polyarticular or systemic juvenile idiopathic arthritis (pJIA, sJIA). METHODS: Patients with pJIA or sJIA from two open-label, 52-week phase 1 b core trials of SC-TCZ who had adequate response per investigator assessment entered the LTE and continued SC-TCZ treatment according to body weight-based dosing regimens until commercial availability or up to 5 years. Pharmacokinetics, pharmacodynamics, and efficacy were assessed for up to 3 years and safety for up to 5 years in the LTE. RESULTS: Forty-four patients with pJIA and 38 patients with sJIA entered the LTE. Tocilizumab trough concentrations were maintained within the range expected to provide clinical benefit (mean values: pJIA, ∼10 µg/ml; sJIA, ∼75 µg/ml over 3 years). Pharmacodynamic parameters (interleukin-6, soluble interleukin-6 receptor, erythrocyte sedimentation rate, C-reactive protein) were maintained throughout the LTE at levels achieved in the core trials. Inactive disease per American College of Rheumatology provisional criteria was reported for 90% (17/19) and 53% (8/15) of patients with pJIA and 91% (10/11) and 92% (12/13) of patients with sJIA in the <30 kg and ≥30 kg body weight groups, respectively. Serious adverse events in the LTE were reported in six patients with pJIA (13.6%; five serious infections) and five patients with sJIA (13.2%; one serious infection). CONCLUSION: Patients with pJIA or sJIA experienced long-term disease control with SC-TCZ treatment. Long-term safety was consistent with the known tocilizumab safety profile.

6.
Int J Mol Sci ; 25(6)2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38542117

ABSTRACT

Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first case of RMS in a Paraguayan patient. The patient is a 6-year-old girl who presented with hypertrichosis, acanthosis nigricans, nephrocalcinosis, and elevated levels of glucose and insulin that served as diagnostic indicators for RMS. Genetic testing by next-generation sequencing (NGS) revealed two pathogenic variants in exons 2 and 19 of the INSR gene: c.332G>T (p.Gly111Val) and c.3485C>T (p.Ala1162Val), in combined heterozygosis. The novel INSR c. 332G>T variant leads to the substitution of glycine to valine at position 111 in the protein, and multiple in silico software programs predicted it as pathogenic. The c.3485C>T variant leads to the substitution of alanine to valine at position 1162 in the protein previously described for insulin resistance and RMS. The management of RMS is particularly challenging in children, and the use of metformin is often limited by its side effects. The patient was managed with nutritional measures due to the early age of onset. This report expands the knowledge of RMS to the Paraguayan population and adds a novel pathogenic variant to the existing literature.


Subject(s)
Donohue Syndrome , Insulin Resistance , Child , Female , Humans , Donohue Syndrome/diagnosis , Insulin Resistance/genetics , Receptor, Insulin/genetics , Receptor, Insulin/metabolism , Mutation , Valine/genetics , Antigens, CD/genetics
7.
Rev. esp. quimioter ; 37(1): 58-68, Feb. 2024. tab, graf
Article in Spanish | IBECS | ID: ibc-230423

ABSTRACT

Objetivo. La pandemia COVID-19 ha causado una variación en la circulación de otros patógenos respiratorios. Nuestro objetivo fue analizar la epidemiología de las infecciones respiratorias agudas graves (IRAG) en niños durante 3 años de pandemia COVID-19, en comparación con un período previo de la misma dimensión temporal. Pacientes y métodos. Estudio observacional, realizado en un hospital terciario de España, que analizó la frecuencia y características de pacientes ingresados por IRAG en la Unidad de Cuidados Intensivos Pediátricos (UCIP) durante la pandemia COVID-19 (1 marzo-2020 a 28 de febrero-2023), en relación a un período pre-pandemia (1 marzo-2017 a 29 febrero-2020). Resultados. Se incluyeron 268 pacientes (59,6% varones). La mediana de edad fue 9,6 meses (RIQ 1,7 – 37). En el período pre-pandemia hubo 126 ingresos con una media de 42 admisiones/año. Durante la pandemia se produjeron 142 ingresos, observándose una reducción significativa de admisiones en el primer año (12 ingresos/año), en contraste con 82 ingresos durante el tercer año, que representó un incremento del 95% respecto a la media de admisiones/año en pre-pandemia. Además, en el último año se evidenció un incremento de coinfecciones virales en relación al período prepandemia (54,9% vs 39,7%; p=0,032). No hubo diferencias en días de hospitalización, ni estancia en UCIP. Conclusiones. Durante el último año, coincidiendo con bajas tasas de hospitalización por COVID en España, observamos un notable incremento de ingresos en la UCIP por IRAG por otras causas. Probablemente, el período prolongado de baja exposición a patógenos por las medidas adoptadas durante la pandemia, ha provocado una disminución de la inmunidad poblacional con un repunte de infecciones respiratorias. (AU)


Objective. The COVID-19 pandemic has caused a variation in the circulation of respiratory pathogens. Our aim was to analyze the epidemiology of severe acute respiratory infections (SARI) in children during 3 years of the COVID-19 pandemic, in comparison with a previous period. Patients and Methods. An observational study was conducted in a tertiary hospital in Spain, which analyzed the frequency and characteristics of patients admitted for SARI in the Pediatric Intensive Care Unit (PICU) during the COVID-19 pandemic (1 March 2020 to 28 February 2023), compared to pre-pandemic period (1 March 2017 to 29 February 2020). Results. A total of 268 patients were included (59.6% males). The median age was 9.6 months (IQR 1.7 – 37). In the pre-pandemic period, there were 126 admissions with an average of 42 admissions/year. During the pandemic, there were 142 admissions, observing a significant reduction in admissions in the first year (12 admissions/year), in contrast to 82 admissions during the third year, which represented an increase of 95% compared to the average of admissions/year in pre-pandemic. In addition, in the last year there was evidence of an increase in viral coinfections in relation to pre-pandemic period (54.9% vs 39.7%; p=0.032). There were no differences in length of hospital stay or PICU stay. Conclusions. During the last year, coinciding with low rates of hospitalization for COVID in Spain, we observed a notable increase in admissions to the PICU for SARI. Probably, the prolonged period of low exposure to pathogens due to the measures adopted during the pandemic might have caused a decrease in population immunity with a rise in severe respiratory infections. (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Respiratory Tract Infections/epidemiology , /complications , Pandemics , Spain/epidemiology
8.
Am J Primatol ; 86(4): e23600, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38263846

ABSTRACT

Efficiently detecting early environmental threats to wildlife is vital for conservation. Beyond obvious dangers like habitat loss or deforestation, our study focuses on one of the most hazardous toxic metals for wildlife: lead (Pb). Pb is a widespread, cumulative, and insidious environmental pollutant that can trigger a wide range of physiological, biochemical, and behavioral disorders. In fact, Pb can cause permanent dysfunction of the major stress system, the hypothalamic pituitary adrenal (HPA) axis. We analyzed Pb and cortisol concentrations in fecal samples from Alouatta pigra in southern Mexico. Fecal samples were collected across six sites categorized as free-ranging (n = 65; conserved and disturbed) and from captive animals (n = 58). Additionally, we collected soil samples (n = 35). We found that Pb was present in 28% of fecal samples and 83% of soil samples. There was a positive relation between fecal and soil Pb levels, and fecal Pb concentration was negatively associated with cortisol levels. However, the claim of Pb being a direct interference with HPA axis requires further investigation. Given our findings, assessing wildlife exposure can be a valuable tool for understanding potential Pb exposure levels in the environment and its possible implications for human health. It can also serve as an early warning system of these consequences.


Subject(s)
Alouatta , Lead , Humans , Animals , Hydrocortisone , Hypothalamo-Hypophyseal System , Pituitary-Adrenal System , Animals, Wild , Alouatta/physiology , Soil , Mexico
9.
Heart ; 110(5): 346-352, 2024 Feb 12.
Article in English | MEDLINE | ID: mdl-37903556

ABSTRACT

OBJECTIVE: This study assessed the long-term effects of triple therapy with prostanoids on patients with pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD), as there is limited information on the safety and efficacy of this treatment approach. METHODS: A retrospective cohort study was conducted on patients with PAH-CHD who were actively followed up at our centre. All patients were already receiving dual combination therapy at maximum doses. Clinical characteristics, including functional class (FC), 6-minute walking test distance (6MWTD) and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels, were documented before initiating triple therapy and annually for a 2-year follow-up period. RESULTS: A total of 60 patients were included in the study, with a median age of 41 years and 68% being women. Of these, 32 had Eisenmenger syndrome, 9 had coincidental shunts, 18 had postoperative PAH and 1 had a significant left-to-right shunt. After 1 year of triple combination initiation, a significant improvement in 6MWTD was observed (406 vs 450; p=0.0027), which was maintained at the 2-year follow-up. FC improved in 79% of patients at 1 year and remained stable in 76% at 2 years. NT-proBNP levels decreased significantly by 2 years, with an average reduction of 199 ng/L. Side effects were experienced by 33.3% of patients but were mostly mild and manageable. Subgroup analysis showed greater benefits in patients without Eisenmenger syndrome and those with pre-tricuspid defects. CONCLUSIONS: Triple therapy with prostanoids is safe and effective for patients with PAH-CHD, improving FC, 6MWTD and NT-proBNP levels over 2 years. The treatment is particularly beneficial for patients with pre-tricuspid defects and non-Eisenmenger PAH-CHD.


Subject(s)
Eisenmenger Complex , Heart Defects, Congenital , Hypertension, Pulmonary , Pulmonary Arterial Hypertension , Humans , Female , Adult , Male , Pulmonary Arterial Hypertension/diagnosis , Pulmonary Arterial Hypertension/drug therapy , Pulmonary Arterial Hypertension/etiology , Eisenmenger Complex/complications , Eisenmenger Complex/drug therapy , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/drug therapy , Hypertension, Pulmonary/etiology , Vasodilator Agents/therapeutic use , Retrospective Studies , Heart Defects, Congenital/complications , Familial Primary Pulmonary Hypertension/complications , Prostaglandins/therapeutic use
10.
Rev Fac Cien Med Univ Nac Cordoba ; 80(4): 456-475, 2023 12 26.
Article in Spanish | MEDLINE | ID: mdl-38150210

ABSTRACT

Introduction: Within the context of the COVID-19 pandemic, children were confined to their homes. The Buenos Aires Metropolitan Area (AMBA) region has the highest urban density in Argentina and has been the epicenter of COVID-19 infections and deaths. The objectives of this study are to characterize the habits of screen use, sedentary lifestyle and physical activity and describe their associations, in children under six years of age from AMBA, Argentina. Methods: analytical and cross-sectional study, in which data from the online survey (Google Forms®) were used. Through a non-probabilistic convenience sampling, fathers, mothers, legal guardians, and caregivers of children under six years of age were invited to participate. The survey was available during four months of the quarantine period and was made up of 31 questions about screen use, physical activity, and sedentary lifestyle of children. Results: 256 surveys were answered, the majority (79.6%) were female and 50.8% in the age range of 31-40 years. Conclusion: The television is the most used and children begin to use touch screens from one year. The play time of adults with children and the time that they usually carry out activities such as reading a book or drawing is one to two hours per day. There was an association between owning the screen and using it for more hours. The lower the income level, the more time adults play with their children.


Introducción: Dentro del contexto de la pandemia de COVID-19, los niños se quedaron confinados en sus hogares. La región del Área Metropolitana de Buenos Aires (AMBA) concentra la mayor densidad urbana de la Argentina y ha sido el epicentro de contagios y muertes por COVID-19. Los objetivos del presente estudio son caracterizar los hábitos del uso de pantalla, de sedentarismo y de la actividad física y describir sus asociaciones, en niños menores a seis años, del AMBA, Argentina. Métodos: estudio analítico y transversal, en que se utilizaron los datos de la encuesta en línea (Google Forms®). Mediante un muestreo no probabilístico por conveniencia, se invitaron a participar padres, madres, tutores legales y cuidadores de niños/as menores de seis años. La encuesta estuvo disponible durante cuatro meses del periodo de cuarentena y estuvo conformada por 31 preguntas sobre uso de pantalla, actividad física y sedentarismo de los niños. Resultados: fueron respondidas 256 encuestas, la mayoría (79,6%) era del género femenino y 50,8% en el rango etario de 31-40 años. Conclusión: La televisión es la más utilizada y los niños empiezan a usar pantallas táctiles a partir de un año. El tiempo de juego de los adultos con los niños y el tiempo que ellos suelen realizar actividades como leer un libro o dibujar es de una a dos horas por día. Hubo asociación entre ser dueño de la pantalla y usarla por más horas. Cuanto menor el nivel de ingreso, más tiempo los adultos juegan con sus niños.


Subject(s)
COVID-19 , Sedentary Behavior , Child , Humans , Child, Preschool , Exercise , Argentina/epidemiology , Social Isolation
11.
Biomolecules ; 13(12)2023 11 30.
Article in English | MEDLINE | ID: mdl-38136599

ABSTRACT

Cytochrome P450 oxidoreductase (POR) is an essential redox partner for steroid and drug-metabolizing cytochromes P450 located in the endoplasmic reticulum. Mutations in POR lead to metabolic disorders, including congenital adrenal hyperplasia, and affect the metabolism of steroids, drugs, and xenobiotics. In this study, we examined approximately 450 missense variants of the POR gene listed in the Genome Aggregation Database (gnomAD) using eleven different in silico prediction tools. We found that 64 novel variants were consistently predicted to be disease-causing by most tools. To validate our findings, we conducted a population analysis and selected two variations in POR for further investigation. The human POR wild type and the R268W and L577P variants were expressed in bacteria and subjected to enzyme kinetic assays using a model substrate. We also examined the activities of several cytochrome P450 proteins in the presence of POR (WT or variants) by combining P450 and reductase proteins in liposomes. We observed a decrease in enzymatic activities (ranging from 35% to 85%) of key drug-metabolizing enzymes, supported by POR variants R288W and L577P compared to WT-POR. These results validate our approach of curating a vast amount of data from genome projects and provide an updated and reliable reference for diagnosing POR deficiency.


Subject(s)
Cytochrome P-450 Enzyme System , NADPH-Ferrihemoprotein Reductase , Humans , NADPH-Ferrihemoprotein Reductase/genetics , NADPH-Ferrihemoprotein Reductase/metabolism , Cytochrome P-450 Enzyme System/genetics , Cytochrome P-450 Enzyme System/metabolism , Mutation , Mutation, Missense , Oxidation-Reduction , Steroids
12.
J Mech Behav Biomed Mater ; 147: 106108, 2023 11.
Article in English | MEDLINE | ID: mdl-37713745

ABSTRACT

OBJECTIVES: This study aimed to develop and evaluate resin-based antibacterial materials incorporating carvone for restorative dentistry. The objectives included assessing antimicrobial activity, conversion degree, mechanical properties, hydrolytic and hygroscopic behavior, cytotoxicity, among others. METHODOLOGY: Carvone was incorporated into resin-based materials following established protocols. Antimicrobial activity was evaluated against S. Aureus. Conversion degree, polimerization kinetics, mechanical properties, hydrolytic and hygroscopic behavior, cytotoxicity, and other properties were assessed using standardized tests and methodologies. RESULTS: Carvone-incorporated materials demonstrated significant antimicrobial activity, minimal changes in conversion degree, comparable mechanical properties, improved hydrolytic and hygroscopic behavior, and lack of cytotoxicity. Antimicrobial resins were obtained due to the hydrophobic nature of carvone and its ability to diffuse through the cell walls of microorganisms, causing membrane damage. The polymerization process yielded successful conversion, ensuring adequate material performance. SIGNIFICANCE: This study showcases that incorporating carvone into methacrylate-based resins can confer antimicrobial properties while preserving key material attributes. Antimicrobial activity against S. aureus is achieved without cytotoxicity in human fibroblasts. While flexural properties are affected only at carvone concentrations exceeding 9%, conversion degree and polymerization kinetics remain stable, except for a specific experimental formulation. These findings highlight the balanced integration of carvone. However, further work, including assessing antimicrobial performance against specific strains like S. Mutans and/or C. Albicans, and evaluating long-term effectiveness, is essential to establish the potential of these materials for dental restorations.


Subject(s)
Composite Resins , Staphylococcus aureus , Humans , Composite Resins/chemistry , Materials Testing , Methacrylates/chemistry , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/chemistry , Polymers , Dental Materials
13.
Biomolecules ; 13(9)2023 09 05.
Article in English | MEDLINE | ID: mdl-37759751

ABSTRACT

This study reports on the synthesis and evaluation of novel compounds replacing the nitrogen-containing heterocyclic ring on the chemical backbone structure of cytochrome P450 17α-hydroxylase/12,20-lyase (CYP17A1) inhibitors with a phenyl bearing a sulfur-based substituent. Initial screening revealed compounds with marked inhibition of CYP17A1 activity. The selectivity of compounds was thereafter determined against cytochrome P450 21-hydroxylase, cytochrome P450 3A4, and cytochrome P450 oxidoreductase. Additionally, the compounds showed weak inhibitory activity against aldo-keto reductase 1C3 (AKR1C3). The compounds' impact on steroid hormone levels was also assessed, with some notable modulatory effects observed. This work paves the way for developing more potent dual inhibitors specifically targeting CYP17A1 and AKR1C3.


Subject(s)
Nitrogen , Sulfur , Secondary Metabolism
14.
Mol Syndromol ; 14(4): 310-321, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37766825

ABSTRACT

Introduction: The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their uncommonness, a comprehensive genotype-phenotype correlation has not fully been defined. Case Presentation: We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (>80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-sensitive genes. We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR. Discussion: Only 8 patients have been described. Our patient shares clinical features with previous reports but differs from them by the presence of genital anomalies. We provide a detailed clinical review and an accurate genotype-phenotype correlation and propose PC, NDUFV1, FGF3, FGF4, and DHCR7 as dosage-sensitive genes with a possible role in the clinical spectrum of our patient; however, expression changes of FGF3/4 were not detected since they must be regulated in a spatiotemporal way. This patient contributes to the accurate description of the pure interstitial trisomy 11q. Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved.

15.
PLOS Glob Public Health ; 3(5): e0000694, 2023.
Article in English | MEDLINE | ID: mdl-37228000

ABSTRACT

Interventions that address adolescent conduct problems are essential for decreasing negative risk behaviors and promoting positive protective factors among youth. Although interventions have been developed and tested in the United States, preventive evidence-based interventions (EBIs) are less available in Latin American countries such as Ecuador. Therefore, the purpose of this study was to evaluate the efficacy of an evidence-based, parent-centered intervention, Familias Unidas, in preventing/reducing conduct problems, across time, among youth in Guayaquil, Ecuador. Ecuadorian youth (ages 12 through 14) and their respective primary caregiver were recruited from two public schools and randomized to either Familias Unidas or Community Practice. A series of latent growth models were run to test for differences between Familias Unidas and Community Practice on conduct disorder symptoms across three timepoints covering 6 months. Ecuadorian mental health professionals were trained to deliver the evidence-based intervention. Findings indicate no direct relationship between condition and average change in conduct problems at 6 months post baseline. However, indirect effects favoring Familias Unidas over Community Practice were found through improvements in family functioning. Findings highlight that Familias Unidas was efficacious in an international setting and indicate the viability of successfully delivering preventive EBIs in Ecuador.

16.
Int J Mol Sci ; 24(7)2023 Mar 26.
Article in English | MEDLINE | ID: mdl-37047231

ABSTRACT

The evidence supporting the biological plausibility of the association of permethrin and malathion with hematological cancer is limited and contradictory; thus, further studies are needed. This study aimed to investigate whether in vitro exposure to 0.1 µM permethrin and malathion at 0, 24, 48 and 72 h after cell culture initiation induced changes in the gene expression and DNA methylation in mononuclear cells from bone marrow and peripheral blood (BMMCs, PBMCs). Both pesticides induced several gene expression modifications in both tissues. Through gene ontology analysis, we found that permethrin deregulates ion channels in PBMCs and BMMCs and that malathion alters genes coding proteins with nucleic acid binding capacity, which was also observed in PBMCs exposed to permethrin. Additionally, we found that both insecticides deregulate genes coding proteins with chemotaxis functions, ion channels, and cytokines. Several genes deregulated in this study are potentially associated with cancer onset and development, and some of them have been reported to be deregulated in hematological cancer. We found that permethrin does not induce DNA hypermethylation but can induce hypomethylation, and that malathion generated both types of events. Our results suggest that these pesticides have the potential to modify gene expression through changes in promoter DNA methylation and potentially through other mechanisms that should be investigated.


Subject(s)
Bone Marrow Cells , DNA Methylation , Gene Expression , Insecticides , Malathion , Organophosphates , Permethrin , Gene Expression/drug effects , DNA Methylation/drug effects , Hematopoiesis/drug effects , Hematopoiesis/genetics , Permethrin/toxicity , Malathion/toxicity , Insecticides/toxicity , Organophosphates/toxicity , Bone Marrow Cells/drug effects , Blood Cells/drug effects , Humans , Male , Young Adult , Cells, Cultured
17.
PLoS One ; 18(4): e0283987, 2023.
Article in English | MEDLINE | ID: mdl-37071612

ABSTRACT

This article focuses on the rationale, design and methods of an effectiveness-implementation hybrid type I randomized trial of eHealth Familias Unidas Mental Health, a family-based, online delivered intervention for Hispanic families to prevent/reduce depressive and anxious symptoms, suicide ideation/behaviors, and drug use in Hispanic youth. Utilizing a rollout design with 18 pediatric primary care clinics and 468 families, this study addresses intervention effectiveness, implementation research questions, and intervention sustainment, to begin bridging the gap between research and practice in eliminating mental health and drug use disparities among Hispanic youth. Further, we will examine whether intervention effects are partially mediated by improved family communication and reduced externalizing behaviors, including drug use, and moderated by parental depression. Finally, we will explore whether the intervention's impact on mental health and drug use, as well as sustainment of the intervention in clinics, varies by quality of implementation at clinic and clinician levels. Trail registration: ClinicalTrials.gov Identifier: NCT05426057, First posted June 21, 2022.


Subject(s)
Hispanic or Latino , Mental Health Services , Telemedicine , Adolescent , Child , Humans , Hispanic or Latino/psychology , Mental Health , Parent-Child Relations , Primary Health Care , Substance-Related Disorders/prevention & control , Randomized Controlled Trials as Topic , Suicidal Ideation , Depression/prevention & control , Anxiety/prevention & control
18.
Proteins ; 91(6): 750-770, 2023 06.
Article in English | MEDLINE | ID: mdl-36607613

ABSTRACT

Lignocellulose is the most abundant natural biopolymer on earth and a potential raw material for the production of fuels and chemicals. However, only some organisms such as bacteria and fungi produce enzymes that metabolize this polymer. In this work we have demonstrated the presence of cellulolytic activity in the supernatant of Scenedesmus quadricauda cultures and we identified the presence of extracellular cellulases in the genome of five Scenedesmus species. Scenedesmus is a green alga which grows in both freshwater and saltwater regions as well as in soils, showing highly flexible metabolic properties. Sequence comparison of the different identified cellulases with hydrolytic enzymes from other organisms using multisequence alignments and phylogenetic trees showed that these proteins belong to the families of glycosyl hydrolases 1, 5, 9, and 10. In addition, most of the Scenedesmus cellulases showed greater sequence similarity with those from invertebrates, fungi, bacteria, and other microalgae than with the plant homologs. Furthermore, the data obtained from the three dimensional structure showed that both, their global structure and the main amino acid residues involved in catalysis and substrate binding are well conserved. Based on our results, we propose that different species of Scenedesmus could act as biocatalysts for the hydrolysis of cellulosic biomass produced from sunlight.


Subject(s)
Cellulases , Scenedesmus , Scenedesmus/metabolism , Phylogeny , Cellulases/genetics , Cellulases/metabolism , Bacteria/metabolism , Hydrolysis , Fungi/metabolism
19.
Rev. enferm. Inst. Mex. Seguro Soc ; 31(1): 3-8, ene 2, 2023. tab
Article in Spanish | LILACS, BDENF - Nursing | ID: biblio-1518499

ABSTRACT

Introducción: en la edad adulta se generan múltiples cambios relacionados con las creencias y actitudes, los cuales generalmente repercuten en la forma de ver o ejercer la sexualidad de los adultos e inclusive en su manera de hablar de ello. Objetivo: determinar la actitud hacia la sexualidad en adultos mayores desde la percepción de adultos jóvenes y adultos mayores. Metodología: estudio cuantitativo y descriptivo, en el que se empleó una muestra de 200 adultos mayores y 100 adultos jóvenes. Se utilizó el Cuestionario de actitudes hacia la sexualidad en la vejez (CASV), diseñado por Orozco y Rodríguez. El análisis estadístico se hizo mediante el programa IBM SPSS Statistics 23. Resultados: el 58.5% de los adultos mayores tiene una actitud positiva hacia la sexualidad. De acuerdo con las pruebas estadísticas, se identificó que a menor edad mayor manifestación de actitudes positivas. En relación con los adultos jóvenes, 83% refirió una actitud indiferente ante la sexualidad en la vejez, a menor edad son más indiferentes (p > 0.05) en su actitud hacia la sexualidad de los adultos mayores. Conclusiones: las actitudes con mayor afluencia fueron positivas hacia la sexualidad de los adultos mayores. Se recomienda profundizar sobre este fenómeno en este grupo poblacional.


Introduction: The physiological changes that develop in older adults generate negative beliefs or attitudes towards their sexuality, which causes them to be repressed from exercising their sexuality or talking about it. Objective: To determine the attitude towards sexuality in older adults from the perception of young adults and older adults. Methodology: Quantitative, descriptive study, with a sample of 200 older adults and 100 young adults. It was used the Questionnaire of attitudes towards sexuality in old age (CASV according to its initials in Spanish), designed by Orozco and Rodriguez. The statistical analysis was performed using the IBM SPSS Statistics 23 program. Results: 58.5% of the older adults had a positive attitude toward sexuality. According to statistical tests, it was identified that the younger the age, the greater the manifestation of positive attitudes. In relation to young adults, 83% reported an indifferent attitude towards sexuality in old age; the younger the age, the more indifferent (p > 0.05) their attitude towards sexuality in older adults. Conclusions: Mot of the attitudes were positive towards the sexuality of older adults. It is recommended to deepen on this phenomenon in this population group.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Aged, 80 and over , Sexuality/psychology , Culture , Cultural Characteristics , Human Development , Mexico
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