Changes in gene expression profiles among individuals with inflammatory bowel diseases (IBDs) could potentially influence the responsiveness to anti-TNF treatment. The aim of this study was to ...identify genes that could serve as predictors of early response to anti-TNF therapies in pediatric IBD patients prior to the initiation of treatment.
We conducted a prospective, longitudinal, and multicenter study, enrolling 24 pediatric IBD patients aged less than 18 years who were initiating treatment with either infliximab or adalimumab. RNA-seq from blood samples was analyzed using the DESeq2 library by comparing responders and non-responders to anti-TNF drugs.
Bioinformatic analyses unveiled 102 differentially expressed genes, with 99 genes exhibiting higher expression in responders compared to non-responders prior to the initiation of anti-TNF therapy. Functional enrichment analyses highlighted defense response to Gram-negative bacteria (FDR = 2.3 ×10–7) as the most significant biological processes, and hemoglobin binding (FDR = 0.002), as the most significant molecular function. Gene Set Enrichment Analysis (GSEA) revealed notable enrichment in transcriptional misregulation in cancer (FDR = 0.016). Notably, 13 genes (CEACAM8, CEACAM6, CILP2, COL17A1, OLFM4, INHBA, LCN2, LTF, MMP8, DEFA4, PRTN3, AZU1, and ELANE) were selected for validation, and a consistent trend of increased expression in responders prior to drug administration was observed for most of these genes, with findings for 4 of them being statistically significant (CEACAM8, LCN2, LTF2, and PRTN3).
We identified 102 differentially expressed genes involved in the response to anti-TNF drugs in children with IBDs and validated CEACAM8, LCN2, LTF2, and PRTN3. Genes participating in defense response to Gram-negative bacterium, serine-type endopeptidase activity, and transcriptional misregulation in cancer are good candidates for anticipating the response to anti-TNF drugs in children with IBDs.
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•Baseline gene expression in blood associates with the response to anti-TNF drugs.•RNA-seq identified 102 genes associated with the response to anti-TNF drugs.•PRTN3, LTF, LCN, and CEACAM8 are overexpressed in responder children.•Cancer-related genes impact the response to anti-TNF drugs.•Overexpressed genes in responder children directly link to TNF processes.
Vulnerabilidad y cultura digital Blanco Alfonso, Ignacio; Fernández-Martínez, Luis Manuel; Suárez-Álvarez, Rebeca
2019, 2019., 20200410, 2020
eBook
El impacto de las Tecnologías de la Información y la Comunicación (TIC) en la sociedad contemporánea ha desencadenado un reportorio de oportunidades y amenazas que han devenido en elementos ...constitutivos de la cultura digital. El ecosistema digital, precisamente porque abre nuevas posibilidades, plantea a las sociedades retos de índole muy diversa. Las estructuras de las naciones desarrolladas descansan hoy sobre un entramado tecnológico e informático para el que ya no hay vuelta atrás. Casi todos los órdenes de la vida se han visto influidos y, en ocasiones, modificados, por una nueva forma de interacción de las personas entre sí y de las personas con su entorno. En un abrir y cerrar de ojos, la vida humana se ha vuelto virtual, interactiva, ubicua, hiperconectada, hipertextual. Ningún ámbito escapa al influjo de las redes digitales de comunicación y su cultura líquida de la visibilidad y la instantaneidad, es decir, del ser y del tiempo, los dos elementos que articulan las relaciones del hombre y su contorno.Ahora bien, si la Sociedad de la Información es consecuencia del progreso tecnológico, este desarrollo no garantiza, por sí solo, el acceso universal y libre a dicha información (UNESCO, 2005). Es necesario dar un paso más hacia la Sociedad del Conocimiento, concepto que implica decisiones éticas, políticas y sociales mucho más amplias, y que tienen que ver con el desarrollo de tecnologías de la comunicación que permitan a los hombres acceder, en igualdad de oportunidades, al conocimiento, la educación y la cultura con los que afrontar su presente y construir su propio futuro.
Purpose
compare incidences of maternal–fetal complications during pregnancy, labor, and early puerperium according to baseline BMI in a consecutive cohort of pregnant women.
Methods
This ...retrospective cohort study compares pregnancy outcome indicators by body mass index (BMI) in 1236 pregnant women managed over the period January 2017 to May 2018. Data were collected regarding the personal history (smoking, diabetes and hypertension), obstetrics and BMI (kg/m
2
) (normoweight 18.5–24.9, overweight 25–29.9, obese ≥ 30).
Results
Of the 1236 women, 354 (28.6%) were overweight and 206 (16.7%) were obese at the start of pregnancy follow-up. Mean age at this time was 33 years (SD 6). Risk factors for a cesarean-section delivery assessed through logistic regression were maternal age (OR 1.05 95% CI 2.06–6.15;
p
< 0.001) and previous C-section (OR 4.21 95% CI 2.89–6.14;
p
< 0.001) regardless of BMI. In a propensity score analysis, pregnancy weight gain was found lower in obese vs normoweight (− 2.73 kg 95% CI − 3.74 to − 1.72
p
< 0.001), and newborn weight higher in obese vs normoweight women (161.21 g 95% CI 57.94–264.48
p
= 0.002). Labor duration and weight gain were reduced in overweight vs normoweight subjects (− 0.72 h 95% CI − 1.27 to − 0.17
p
= 0.010 and 0.81 kg 95% CI − 1.50 to − 0.12
p
= 0.021, respectively).
Conclusions
In this cohort, obese women showed higher rates of prenatal complications yet obesity and overweight were not related to worse puerperium outcomes.
YouTube es la red social más vista por los menores en la que crean y difunden sus producciones audiovisuales con los riesgos que comporta y a los que se ven expuestos. El objetivo de esta ...investigación es precisar las situaciones de vulnerabilidad de los vídeos de los y las adolescentes españoles en YouTube, a tenor de su género y edad. Mediante un análisis de contenido de 300 vídeos subidos por youtubers adolescentes españoles de entre 11 y 17 años se estudia la incorporación de comentarios reprobables, vocabulario obsceno, falta de protección de la identidad y presencia de imágenes inapropiadas desde el anuncio del estado de alarma hasta su finalización, a causa de la COVID-19. Los resultados confirman las diferencias de género en relación a las situaciones de vulnerabilidad en esta red social. Las chicas están mucho más expuestas en los vídeos que publican (85% registra protección baja) que los chicos (81% registra protección alta). Los chicos de 16 y 17 años son los que más comentarios obscenos y reprobables utilizan, y chicos y chicas prácticamente no difunden imágenes censurables.
El consumo excesivo de sodio es causa importante de enfermedades no transmisibles incluyendo hipertensión. En esta investigación se evaluó una metodología sensorial para reducir el contenido de sodio ...en salsas de tomate y mayonesas, productos altamente consumidos en Costa Rica. Se caracterizaron, por triplicado, 16 salsas y 7 mayonesas comerciales para determinar los ingredientes más comunes y sus características físicoquímicas. Se comparó el contenido de sodio reportado en la etiqueta contra el valor determinado experimentalmente. Se formularon prototipos de ambos productos y se determinó el umbral de diferencia apenas perceptible (DAP) para el gusto salado utilizando el método de estímulo constante con 40 panelistas no entrenados (d'= 1, significancia de 0,05 y potencia de prueba de 0,95). Se contruyeron las curvas psicofísicas con concentraciones de sal entre 0,67% y 2,5% para salsa de tomate y 0,13% y 4,16% para mayonesa; obteniéndose DAPs de 0,51% y 0,26% respectivamente; equivalentes a 28,3% y 14,4% menos de sal en cada producto. Para la validación del umbral, se aplicó una prueba de discriminación 2-AFC con 40 panelistas comparando la formulación regular con la reducida en sodio. Los panelistas no detectaron diferencias significativas entre mayonesas (P>0,05) pero sí entre salsas (P<0,05), por lo que se aplicó una prueba de agrado con 112 consumidores y se determinó que la salsa reducida en sodio resultó de mayor o igual agrado que la contraparte. Estos resultados guiarían a la industria alimentaria regional hacia el mejoramiento del perfil nutricional de estos productos.
The excessive consumption of sodium is an important cause of noncommunicable diseases including hypertension. This research aimed, using a sensorial methodology, to reduce sodium content in tomato sauces and mayonnaise, highly consumed products in Costa Rica. A total of 16 commercial sauces and 7 mayonnaises were characterized to determine their most common ingredients and physicochemical properties. The sodium content reported in the labed was compared against values obtained experimentally. Prototypes for both products were developed and the threshold for the just noticiable difference (JND) for salty flavor was determined using the constant stimulus method with 40 panelists (d'= 1, 0.05 significance and a test power of 0,95). Psychophysical curves were built with salt concentrations between 0.67% and 2.5% for tomato sauce and 0.13% and 4.16% for mayonnaise; obtaining JNDs of 0.51% and 0.26% respectively; equivalent to 28.3% and 14.4% less salt in tomato and mayonnaise. To validate the threshold, a discriminatory 2-AFC test with 40 panelists was performed to compare the regular formulations against those reduced in sodium. Panelists did not detect significant differences among mayonnaises (P>0.05) but they did found differences between sauces (P<0.05). Thus, for tomato sauce a consumer liking test with 112 consumers was performed and it was found that sodium reduced tomato sauce was equally or more liked than its counterpart. These results guide the regional food industry towards the improval of the nutritional profile of both products.
The research addresses whether adolescents are increasing their self-sexualisation on TikTok through content analysis. It has studied the type and number of sexualising features present in the videos ...that Spanish and British teenagers share on the social network TikTok, offering a comparative view. A total of 447 videos from 12 British and 12 Spanish tiktokers aged 11 to 17 have been analysed, considering their gender and age and comparing both nationalities. A high level of self-sexualisation has been found in the videos of adolescents of both genders and nationalities. The results show that age and gender determine the sexualising characteristics included in their videos and that British and Spanish minors do not use the same sexualising codes, although neither nationality is more sexualised than the other. It has been confirmed that boys and girls self-sexualise in similar proportions. Age determines sexualising characteristics they incorporate in their audio–visual productions, which indicate the blurring of traditional stereotyped roles and the unification of sexual codes that have traditionally been considered a female domain.
Research shows that parental mediation is essential for the introduction of minors into the digital environment and their development therein as well as to reduce their exposure to online risks. The ...present study examines parental strategies depending on whether minors are (dis)connected to the Internet and whether they differ according to their age. The motivations for minors to connect are also examined in relation to the frequency to which they connect to the Internet (activities related to school or learning, interacting with friends, and being entertained). The sample consists of 776 Spanish families with minors aged 5–17. Results show that parental mediation depends on the age of the minor, parental mediation strategies are more restrictive when minors are younger, and as their age increases strategies become more dialogue and collaboration oriented. In adolescence, parents mainly control internet purchases, yet they become more flexible with minors’ presence on social networks. The conclusions reveal that parental mediation is in the process of evolving from a restrictive approach to one that is more empathetic. The change in mediation is due to a greater awareness of the relevance of proper use of the Internet for the well-being of their children.
Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. ...However, accurate selection of target genomic regions (gene panel/exome/genome), analytical performance and variant interpretation remain relevant difficulties for its clinical implementation.
We developed a novel NGS panel with 199 genes associated with non-syndromic and/or syndromic SNHL. We evaluated the analytical sensitivity and specificity of the panel on 1624 known single nucleotide variants (SNVs) and indels on a mixture of genomic DNA from 10 previously characterized lymphoblastoid cell lines, and analyzed 50 Spanish patients with presumed hereditary SNHL not caused by GJB2/GJB6, OTOF nor MT-RNR1 mutations.
The analytical sensitivity of the test to detect SNVs and indels on the DNA mixture from the cell lines was > 99.5%, with a specificity > 99.9%. The diagnostic yield on the SNHL patients was 42% (21/50): 47.6% (10/21) with autosomal recessive inheritance pattern (BSND, CDH23, MYO15A, STRC n = 2, USH2A n = 3, RDX, SLC26A4); 38.1% (8/21) autosomal dominant (ACTG1 n = 3; 2 de novo, CHD7, GATA3 de novo, MITF, P2RX2, SOX10), and 14.3% (3/21) X-linked (COL4A5 de novo, POU3F4, PRPS1). 46.9% of causative variants (15/32) were not in the databases. 28.6% of genetically diagnosed cases (6/21) had previously undetected syndromes (Barakat, Usher type 2A n = 3 and Waardenburg n = 2). 19% of genetic diagnoses (4/21) were attributable to large deletions/duplications (STRC deletion n = 2; partial CDH23 duplication; RDX exon 2 deletion).
In the era of precision medicine, obtaining an etiologic diagnosis of SNHL is imperative. Here, we contribute to show that, with the right methodology, NGS can be transferred to the clinical practice, boosting the yield of SNHL genetic diagnosis to 50-60% (including GJB2/GJB6 alterations), improving diagnostic/prognostic accuracy, refining genetic and reproductive counseling and revealing clinically relevant undiagnosed syndromes.
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