Editorial: Brain-Behaviour Interfaces in Linguistic Communication

Language is a uniquely human cognitive function, which greatly defines and determines our psychological and social traits. Despite the importance of language and speech, they remain among the least understood human cognitive processes, and their neurobiological underpinnings are still poorly understood

Integration of in vitro allergy test results and ratio analysis for the diagnosis and treatment of allergic patients (INTEGRA)

Al·lèrgia; Diagnòstic molecular; RecomanacionsAlergia; Diagnóstico molecular; RecomendacionesAllergy; Molecular diagnosis; RecommendationsThe introduction of molecular diagnosis into routine clinical practice has substantially improved the diagnosis and management of allergic patients by allowing clinicians to precisely identify the allergenic molecule responsible for immunoglobulin E (IgE)-mediated allergies. However, it can be challenging to accurately interpret the results of molecular assays, partly due to the limited evidence base. In this context, a panel of experts with extensive experience in interpreting in vitro measures of total and serum specific IgE reviewed the available scientific evidence. After this review, the panel selected a series of representative case studies to demonstrate how determination of specific and total IgE values and the relationship between them (ratio analysis) can add value to the diagnostic process by more precisely defining the patient’s sensitization profile. Finally, the experts developed a series of recommendations on the clinical application of ratio analysis to optimize and complement the classical approach to allergy diagnosis

Non-specific lipid-transfer proteins: Allergen structure and function, cross-reactivity, sensitization, and epidemiology

Al·lèrgia; Epidemiologia; Proteïna de transferència de lípidsAlergia; Epidemiología; Proteína de transferencia de lípidosAllergy; Epidemiology; Lipid transfer proteinBackground Discovered and described 40 years ago, non-specific lipid transfer proteins (nsLTP) are present in many plant species and play an important role protecting plants from stressors such as heat or drought. In the last 20 years, sensitization to nsLTP and consequent reactions to plant foods has become an increasing concern. Aim The aim of this paper is to review the evidence for the structure and function of nsLTP allergens, and cross-reactivity, sensitization, and epidemiology of nsLTP allergy. Materials and Methods A Task Force, supported by the European Academy of Allergy & Clinical Immunology (EAACI), reviewed current evidence and provide a signpost for future research. The search terms for this paper were “Non-specific Lipid Transfer Proteins”, “LTP syndrome”, “Pru p 3”, “plant food allergy”, “pollen-food syndrome”. Results Most nsLTP allergens have a highly conserved structure stabilised by 4-disulphide bridges. Studies on the peach nsLTP, Pru p 3, demonstrate that nsLTPs are very cross-reactive, with the four major IgE epitopes of Pru p 3 being shared by nsLTP from other botanically related fruits. These nsLTP allergens are to varying degrees resistant to heat and digestion, and sensitization may occur through the oral, inhaled or cutaneous routes. In some populations, Pru p 3 is the primary and sole sensitizing allergen, but many are poly-sensitised both to botanically un-related nsLTP in foods, and non-food sources of nsLTP such as Cannabis sativa, Platanus acerifolia, (plane tree), Ambrosia artemisiifolia (ragweed) and Artemisia vulgaris (mugwort). Initially, nsLTP sensitization appeared to be limited to Mediterranean countries, however more recent studies suggest clinically relevant sensitization occurs in North Atlantic regions and also countries in Northern Europe, with nsLTP sensitisation profiles being broadly similar. Discussion These robust allergens have the potential to sensitize and provoke symptoms to a large number of plant foods, including those which are raw, cooked or processed. It is unknown why some sensitized individuals develop clinical symptoms to foods whereas others do not, or indeed what other allergens besides Pru p 3 may be primary sensitising allergens. It is clear that these allergens are also relevant in non-Mediterranean populations and there needs to be more recognition of this. Conclusion Non-specific LTP allergens, present in a wide variety of plant foods and pollens, are structurally robust and so may be present in both raw and cooked foods. More studies are needed to understand routes of sensitization and the world-wide prevalence of clinical symptoms associated with sensitization to these complex allergens

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

Gaucher disease type 3; Clinical manifestations; MutationsEnfermedad de Gaucher tipo 3; Manifestaciones clínicas; MutacionesMalaltia de Gaucher tipus 3; Manifestacions clíniques; MutacionsThis was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.2 years, respectively, and the mean age at follow-up completion was 12.37 years (range: 1-25 years). Most patients exhibited splenomegaly (18/19) and hepatomegaly (17/19) at the time of diagnosis. The most frequent neurological abnormalities at onset were psychomotor retardation (14/19) and extrinsic muscle disorders (11/19), including oculomotor apraxia, supranuclear palsy, and strabismus. The L444P (c.1448T>C) allele was predominant, with the L444P (c.1448T>C) homozygous genotype mainly associated with visceral manifestations like hepatosplenomegaly, anemia, and thrombocytopenia. All patients received enzyme replacement therapy (ERT); other treatments included miglustat and the chaperone (ambroxol). Visceral manifestations, including hepatosplenomegaly and hematological and bone manifestations, were mostly controlled with ERT, except for kyphosis. The data from this study may help to increase the evidence base on this rare disease and contribute to improving the clinical management of GD3 patients.This research was funded by Sanofi Spain

Perfil de sensibilització a diverses varietats d'enciam en pacients al·lèrgics i reactivitat encreuada

Introducció: Està descrit com a únic al·lergen de l'enciam una nsLTP:Lac s 1(9KDa). Objectius: Analitzar el perfil de sensibilització a varietats d'enciams ,la reactivitat encreuada i el perfil de reconeixement molecular. Mètodes: Proves cutànies a extractes d'enciams, immunodeteccions ,ImmunoCAP-ISAC i ISAC-Inhibició en pacients sensibilitzats. Resultats: No es va trobar associació entre la sensibilització a varietats d'enciam. A més de Lac s 1 es van reconèixer altres bandes fixadores d'IgE. Conclusions: Els perfils de sensibilització no suggereixen reactivitat encreuada. A més d'estar sensibilitzats a LTP, alguns pacients estan sensibilitzats a al·lèrgens menors. Un d'ells és, probablement, una profilina

Conciliación trabajo-familia en tiempos de Covid-19 y su relación con el engagement y burnout de docentes universitarios de Chile.

La pandemia por COVID-19, se presenta como un evento repentino generando emociones negativas por todo lo que ha implicado a lo largo de su estadía en el mundo. El objetivo de esta investigación fue analizar la relación entre la Conciliación Trabajo-Familia con Engagement y Burnout, y comparar su Conciliación Trabajo-Familia, Engagement y Burnout, según la institución a la que pertenecen y datos sociodemográficos, en 203 docentes universitarios. El enfoque metodológico fue correlacional-explicativo. Los resultados indican que a mayor conciliación Trabajo-Familia, mayor es el Engagement y menor el Burnout. Al realizar las correlaciones por universidades, los resultados son diferentes, mediante la aplicación de t de student y ANOVA se observaron diferencias significativas en los diversos grupos, siendo las principales las del Engagement según la universidad a la que pertenecen, del Burnout según el género y la compañía con las que enfrenta la pandemia (pareja, hijos), de las interacciones negativas trabajo-familia según la edad y de las interacciones positivas trabajo-familia la cantidad de personas con las que se vive. Estos resultados ponen de relieve la importancia de seguir avanzando en temas de equidad de género, vida en comunidad y la gestión que hagan las universidades a través de prácticas organizacionales para el bienestar, felicidad y salud de los trabajadores.Peer ReviewedPostprint (author's final draft

Evolution of Angiogenic Factors in Pregnant Patients with Breast Cancer Treated with Chemotherapy

Factors angiogènics; Quimioteràpia; EmbaràsFactores angiogénicos; Quimioterapia; EmbarazoAngiogenic factors; Chemotherapy; PregnancyHigh prevalence of placental-derived complications, such as preeclampsia and intrauterine growth restriction, has been reported in women with breast cancer (BC) treated with chemotherapy during pregnancy (PBC-CHT). Aim: To ascertain whether PBC-CHT is associated with an imbalance of angiogenic factors, surrogate markers for placental insufficiency, that could explain perinatal outcomes. Methods: Prospective study between 2012 and 2016 in a single institution. Soluble fms-like tyrosine kinase (sFlt-1), placental growth factor (PlGF), and soluble endoglin (sEng) in maternal blood were assessed throughout pregnancy in 12 women with BC and 215 controls. Results: Cancer patients were treated with doxorubicin-based regimes and with taxanes. Ten PBC-CHT (83%) developed obstetrical complications. At the end of the third trimester, significantly higher levels of sFlt-1; sFlt-1/PGF ratio, and sEng levels were observed in BC women as compared to controls. Moreover; there was a significant correlation between plasma levels of sFlt-1 and the number of chemotherapy cycles administered. Besides, more chemotherapy cycles correlated with lower birthweight and head circumference at birth. Conclusions: Women with BC treated during pregnancy showed an antiangiogenic state compatible with placental insufficiency. Angiogenic factors could be useful in the clinical obstetric management of these patients; although further studies will be required to guide clinical decision-making.This study was funded by the Spanish Research Project in Health funded by ISCIII, the state plan for scientific and technical research and innovation 2015–2018, and European Regional Development Fund (ERDF), ref. PI15/02252. This study was also supported in part by RETICS ‘Maternal and Child Health and Development Network’ (SAMID Network), funded by the PN I + D + i 2008–2016 (Spain), ISCIII-Sub-Directorate General for Research Assessment and Promotion, and the European Regional Development Fund (ERDF), ref. RD12/0026 and RD16/0022. O.S. was supported by SAMID Network (RD12/0026/0016 and RD16/0022/0015) and S.M. was supported by “Paseico de la mama”

Paradigmatic de novo GRIN1 variants recapitulate pathophysiological mechanisms underlying GRIN1-related disorder clinical spectrum

Background: GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting GRIN genes (mostly GRIN1, GRIN2A and GRIN2B genes), which encode for the GluN subunit of the N-methyl D-aspartate (NMDA) type ionotropic glutamate receptors. A growing number of functional studies indicate that GRIN-encoded GluN1 subunit disturbances can be dichotomically classified into gain- and loss-of-function, although intermediate complex scenarios are often present. Methods: In this study, we aimed to delineate the structural and functional alterations of GRIN1 disease-associated variants, and their correlations with clinical symptoms in a Spanish cohort of 15 paediatric encephalopathy patients harbouring these variants. Results: Patients harbouring GRIN1 disease-associated variants have been clinically deeplyphenotyped. Further, using computational and in vitro approaches, we identified different critical checkpoints affecting GluN1 biogenesis (protein stability, subunit assembly and surface trafficking) and/or NMDAR biophysical properties, and their association with GRD clinical symptoms. Conclusions: Our findings show a strong correlation between GRIN1 variants-associated structural and functional outcomes. This structural-functional stratification provides relevant insights of genotypephenotype association, contributing to future precision medicine of GRIN1-related encephalo