Recent Submissions

Visualization of Lipid Droplets in the Alveolar Macrophage Cell Line MH-S with Live-cell Imaging by 3D Holotomographic Microscopy (Nanolive) 

Lipid droplets (LD), triglycerides and sterol esters among them, are well known for their capacity as lipid storage organelles. Recently, they have emerged as critical cytoplasmic structures involved in numerous biological functions. LD storage is generated de novo by the cell and provides an energ...

Toll-like Receptor Signaling-deficient Cells Enhance Antitumor Activity of Cell-based Immunotherapy by Increasing Tumor Homing 

Cancer immunotherapy aims to activate the immune system. Some immunotherapeutic agents can be loaded in carrier cells for delivering to the tumors. However, a challenge with cell-based therapies is the selection of the appropriate cells to produce effective clinical outcomes. We hypothesize that th...

Labdane conjugates protect cardiomyocytes from doxorubicin-induced cardiotoxicity 

The cardiovascular side effects associated with doxorubicin (DOX), a wide spectrum anticancer drug, have limited its clinical application. Therefore, to explore novel strategies with cardioprotective effects, a series of new labdane conjugates were prepared (6a-6c and 8a-8d) from the natural diterp...

Synthesis of Quinoline and Dihydroquinoline Embelin Derivatives as Cardioprotective Agents 

A set of new dihydroquinoline embelin derivatives was obtained from the reaction of the natural benzoquinone embelin (1) with anilines and aromatic aldehydes in the presence of AgOTf. The synthesis of these compounds involves the formation of a Knoevenagel adduct, followed by nucleophilic addition ...

Prevalence and mortality among children with anorectal malformation: A multi-country analysis 

Purpose: We examined the total prevalence, trends in prevalence, and agespecific mortality among individuals with anorectal malformation (ARM). Methods: We conducted a retrospective cohort study using data from 24 population-and hospital-based birth defects surveillance programs affiliated with the...

Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations 

Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data Set at h...

Switchable CAR T cell strategy against osteosarcoma 

Immunotherapy with chimeric antigen receptor T (CAR T) cells has changed the treatment of hematological malignances, but they are still a challenge for solid tumors, including pediatric sarcomas. Here, we report a switchable CAR T cell strategy based on anti-FITC CAR T cells and a switch molecule c...

Lung Adenocarcinoma Cell Sensitivity to Chemotherapies: A Spotlight on Lipid Droplets and SREBF1 Gene 

To explore the relationship between cancer cell SREBF1 expression, lipid droplets (LDs) formation, and the sensitivity to chemotherapies, we cultured lung adenocarcinoma cells H1299 (with LD) and H1563 (without LD) in a serum-free basal medium (BM) or neutrophil degranulation products containing me...

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative 

CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedic...

Systematic multi-omics cell line profiling uncovers principles of Ewing sarcoma fusion oncogene-mediated gene regulation 

Ewing sarcoma (EwS) is characterized by EWSR1-ETS fusion transcription factors converting polymorphic GGAA microsatellites (mSats) into potent neo-enhancers. Although the paucity of additional mutations makes EwS a genuine model to study principles of cooperation between dominant fusion oncogenes a...

Synaptic components are required for glioblastoma progression in Drosophila 

Glioblastoma (GB) is the most aggressive, lethal and frequent primary brain tumor. It originates from glial cells and is characterized by rapid expansion through infiltration. GB cells interact with the microenvironment and healthy surrounding tissues, mostly neurons and vessels. GB cells project t...

Safety and Efficacy of an Oncolytic Adenovirus as an Immunotherapy for Canine Cancer Patients 

The use of oncolytic viruses is an innovative approach to lyse tumor cells and induce antitumor immune responses. Eight dogs diagnosed with carcinoma/adenocarcinoma were intratumorally treated with ICOCAV15, an oncolytic canine adenovirus (CAV). To evaluate the treatment's safety, a blood count, bi...

Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways 

The SERPINA1 gene encodes alpha1-antitrypsin (AAT), an acute phase glycoprotein and serine protease inhibitor that is mainly (80-90%) produced in the liver. Point mutations in the SERPINA1 gene can lead to the misfolding, intracellular accumulation, and deficiency of circulating AAT protein, increa...

Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey 

There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) p...

Association between residential proximity to environmental pollution sources and childhood renal tumors 

Background: Few risk factors for childhood renal tumors are well established. While a small fraction of cases might be attributable to susceptibility genes and congenital anomalies, the role of environmental factors needs to be assessed. Objectives: To explore the possible association between resid...

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagno...

Investigación epidemiológica en el autismo: una visión integradora 

[ES] Introducción. Sesenta años después de las primeras descripciones del Autismo, todavía hoy siguen vigentes aquellos criterios diagnósticos basados en la observación clínica. El Instituto de Salud Carlos III creó hace dos años el Grupo de Estudio en los Trastornos del Espectro Autista (GETEA), c...

Guía de buena práctica para la detección temprana de los trastornos del espectro autista (I) 

[ES] Introducción. El interés por la identificación temprana en los trastornos del espectro autista (TEA) radica en la evidencia acumulada que establece que una intervención temprana específica, personalizada para el niño y su familia, conduce a una mejoría en el pronóstico de la mayoría de los cas...

Guía de buena práctica para el diagnóstico de los trastornos del espectro autista 

[ES] Introducción. El proceso diagnóstico en los trastornos del espectro autista (TEA) es una actividad que requiere especialización y experiencia, tanto en relación al conocimiento del autismo como para trabajar en equipo con diferentes profesionales, muchas veces adscritos a distintos servicios c...

Guía de buena práctica para la investigación de los trastornos del espectro autista 

[ES] Introducción. La comprensión del autismo y de los trastornos generalizados del desarrollo, conocidos como trastornos del espectro autista (TEA), constituye un reto científico de extraordinaria magnitud. Suponen formas graves y tempranas de alteración psicopatológica infantil, presentan una pre...