Women's perceptions about changes in food-related behaviours at home during COVID-19 pandemic in Chile.

OBJECTIVE: To explore women's perceptions of changes in specific food habits at home, specifically the food budget and shopping, and food preparation, during the COVID-19 period. DESIGN: Non-probabilistic, exploratory study. Participants completed an online self-administered questionnaire. Perceptions of food habit changes were measured on a five-point Likert scale (strongly disagree to strongly agree). Data analysis was conducted in STATA v16.0. SETTING: Chile. PARTICIPANTS: Adult women between 25 and 65 years old (n 2047). RESULTS: Of the participants, 72 % were responsible for cooking, 69 % for buying food and 85 % for child care. Difficulties in organising and doing food budget works were observed in groups with a lower educational level, lower income and single mothers with children. Younger participants, dependent workers, women from biparental families with children and those in mandatory quarantine perceived more changes in their food shopping and budget management tasks. Participants more educated, with higher income and non-mandatory quarantine perceived to cook and eat healthier. Older participants perceived minor changes in their food preparation tasks at home; in contrast, more educated women and women from biparental families with children perceived more changes. If women were in charge of the kids or grocery shopping, more food environment changes were noticed. CONCLUSIONS: Women perceived changes in their food environments. Some of these changes are perceived worse in the more vulnerable population. COVID-19 presents a challenge for the food system and gender perspectives. This information should be considered in the design of food-related interventions.

Epidemiology of Severe Acute Diarrhea in Patients Requiring Hospital Admission.

BACKGROUND: Information on the epidemiology and susceptibility patterns of main pathogens causing severe acute diarrhea may help to reduce inappropriate antimicrobial use in emergency departments. OBJECTIVES: We sought to investigate the micro-organisms causing severe acute diarrhea in patients requiring hospital admission by means of a commercial multiple polymerase chain reaction system. METHODS: Between November 2016 and October 2018 we studied 132 patients with acute diarrhea who required hospital admission at a 250-bed hospital in Spain. Demographic, clinical, analytical, and microbiological data were collected from the medical records. Stool samples were processed using a rapid commercial multiple polymerase chain reaction system (FilmArray Gastrointestinal Panel), stool culture, and standard microbiological procedures. RESULTS: The median age (range) of patients was 45.5 (0.1-92) years, and 50% were male; 46.2% presented with fever, 62.8% presented with vomiting, and 12.9% presented with rectal bleeding. At least 1 enteric pathogen was identified in 93 (70.4%) patients; 28 (21.2%) patients had >1 micro-organism. FilmArray Gastrointestinal Panel results were available in a median (range) of 1 (0-3) days. The micro-organisms most frequently identified were 24 cases of Campylobacter species, 20 cases of Clostridioides difficile producing toxin A or toxin B, 20 cases of Salmonella species, 12 cases of rotavirus, and 30 cases of different types of pathogenic Escherichia coli. Among the cases of C. difficile, 12 (60%) were community-acquired and 8 (40%) had an undetermined origin. CONCLUSION: The FilmArray Gastrointestinal Panel system provides fast and reliable results and could be useful to select the most appropriate antimicrobial based on local susceptibilities until the results of the cultures are available.

Stress in parents of preschoolers with Autism Spectrum Disorders: an update review.

BACKGROUND: Parental stress experienced in the context of caring for children with autism spectrum disorder (ASD) in preschool is significant and has been poorly studied; studies tend to focus on more advanced ages of children where parental symptomatology has become chronic. The current study sought to provide new empirical evidence on factors associated with parental stress. METHODS: An exhaustive search was conducted in four academic databases: CINAHL Complete, Medline Complete, Web of Science (WoS), and Scopus, limiting the articles to those published between 2017 and 2023. RESULTS: The sample obtained consisted of 24 selected articles, which were produced in 11 countries, and all were in English. In terms of content, the topics addressed were the manifestation of parental stress, factors of the child with ASD and their relationship with parental stress, factors of parents of children with ASD, family factors of parents of children with ASD, social factors of parents of children with ASD, parental stress and access to formal care services, and parental stress and specialized interventions. CONCLUSIONS: It is possible to affirm that research reports indicate that the general level of stress among parents of children with ASD is compared to their reference groups, both in relation to child-related stress and other stressors. The variables that affect parental stress exhibit a reciprocal influence among them, so interventions aimed at early childhood should incorporate both the children and their parental figures. This is in consideration of the impact that stress has on the mental health of parents, establishing that parents with better health have early access to support services during the early years of parenting, as well as in later years.

INTRODUCCIÓN: El estrés parental vivenciado en el contexto de cuidado de los niños con trastorno del espectro autistas en etapa preescolar es significativo y ha sido muy poco estudiado, las investigaciones tienden a focalizarse en edades de los niños más avanzada donde la sintomatología de los padres se ha cronificado. El objetivo de la presente investigación fue actualizar el corpus de evidencia empírica referida a los factores relacionados con el Estrés parental. MÉTODOS: Se realizó una búsqueda exhaustiva en cuatro bases de datos académicas: CINAHL Complete, Medline Complete, Web of Science (WoS) y Scopus, limitando los artículos publicados entre los años 2017 y 2023. RESULTADOS: La muestra obtenida fue de 24 artículos seleccionados, los cuales fueron producidos por 11 países todos de habla inglesa. En cuanto al contenido, los temas abordados son: La manifestación del estrés parental, factores del niño con TEA y su relación con el estrés parental, factores de los padres de los niños con TEA, factores familiares de los padres de los niños con TEA, factores sociales de los padres de los niños con TEA, estrés parental y acceso a los servicios formales de atención, y estrés parental e intervenciones especializadas. CONCLUSIONES: Es posible afirmar que las investigaciones reportan que el nivel general de estrés de los padres de niños con TEA es superior al de sus grupos de referencia, tanto en relación al estrés relacionado con el niño, como el que no. Las variables que afectan el estrés parental presentan una influencia recíproca entre éstas, por lo que las intervenciones dirigidas a la primera infancia deberían incorporar a los niños y a sus figuras parentales. Esto, en atención al impacto que el estrés presenta en la salud mental de los padres, estableciendo que los padres con mejor salud mental presentan mayor acceso temprano a los servicios de apoyo durante los primeros años de crianza, y en los años posteriores.

Indicators of verbal creative thinking: results of a Delphi panel.

Introduction: Creativity is a fundamental competence that manifests itself in various domains of knowledge, including verbal creativity. The main aim of this study was to identify indicators of verbal creativity for the assessment of three writing tasks. Methods: Sixteen multidisciplinary and international creativity experts participated in a two-stage Delphi panel. The administered questionnaire asked about the measurement or non-measurement of eight indicators of verbal creative thinking in three tasks: problem posing, creative idea generation, and idea improvement. Originality is the most important indicator of creativity. The indicators identified in the first task were fluency, flexibility, originality, elaboration, and sensitivity to problems. The second task measures flexibility, originality, elaboration, opacity, and dynamic integration. In the third task, fluency, flexibility, originality, elaboration, dynamic integration, and refinement of ideas are considered. Results: The results of this study are key to progress in the field of measuring verbal creative thinking. Discussion: The identification of indicators of the construct called verbal creativity allows the determination of its components in order to be able to estimate the creative potential in this specific domain.

Extracorporeal Shockwave Therapy (ESWT), a Novel Method for Transferring Oral Implant Primary Failures to Final Clinical Success: A Test Case Report Followed up over More than 6 Years.

PURPOSE: To evaluate the feasibility of reversing a primary failure through therapeutic mechanical stimulation induced by transcutaneous application of acoustic waves (ESWT) in the peri-implant tissues. Materials and Μethods: This clinical report evaluates the outcome of a new protocol proposed to treat a primary failure (loosened oral implant); application of three cycles of ESWT, once session per week for 3 consecutive weeks, with an equivalent positive energy of 0,18 mJ/mm² (therapeutic dose: 2000 impulses/ 8Hz/ 4.0 bar). Standardized intraoral radiographs, Cone Beam Computed Tomography (CBCT), Implant Stability Quotient (ISQ) and clinical evaluations were performed. RESULTS: It was possible to verify a progressive increase in the ISQ value after the ESWT protocol; 17 (initial), 46 (after two months) and 68 (after four months), which led to successful implant prosthetic rehabilitation (35 N/cm measured). Our evaluation at 6 years of follow-up confirms that the new bone-implant interface is preserved and ESWT as a safe non-invasive treatment. CONCLUSION: In the context of the new dynamic model of osseointegration, the Foreign Body Equilibrium (FBE), this represents the first report of a host-Implant equilibrium re-established after an early failure process. However, it is necessary to perform studies to determine both the medical device and the most effective therapeutic range for clinical applications of this technology in oral implantology.

Potential of E-Learning Interventions and Artificial Intelligence-Assisted Contouring Skills in Radiotherapy: The ELAISA Study.

PURPOSE: Most research on artificial intelligence-based auto-contouring as template (AI-assisted contouring) for organs-at-risk (OARs) stem from high-income countries. The effect and safety are, however, likely to depend on local factors. This study aimed to investigate the effects of AI-assisted contouring and teaching on contouring time and contour quality among radiation oncologists (ROs) working in low- and middle-income countries (LMICs). MATERIALS AND METHODS: Ninety-seven ROs were randomly assigned to either manual or AI-assisted contouring of eight OARs for two head-and-neck cancer cases with an in-between teaching session on contouring guidelines. Thereby, the effect of teaching (yes/no) and AI-assisted contouring (yes/no) was quantified. Second, ROs completed short-term and long-term follow-up cases all using AI assistance. Contour quality was quantified with Dice Similarity Coefficient (DSC) between ROs' contours and expert consensus contours. Groups were compared using absolute differences in medians with 95% CIs. RESULTS: AI-assisted contouring without previous teaching increased absolute DSC for optic nerve (by 0.05 [0.01; 0.10]), oral cavity (0.10 [0.06; 0.13]), parotid (0.07 [0.05; 0.12]), spinal cord (0.04 [0.01; 0.06]), and mandible (0.02 [0.01; 0.03]). Contouring time decreased for brain stem (-1.41 [-2.44; -0.25]), mandible (-6.60 [-8.09; -3.35]), optic nerve (-0.19 [-0.47; -0.02]), parotid (-1.80 [-2.66; -0.32]), and thyroid (-1.03 [-2.18; -0.05]). Without AI-assisted contouring, teaching increased DSC for oral cavity (0.05 [0.01; 0.09]) and thyroid (0.04 [0.02; 0.07]), and contouring time increased for mandible (2.36 [-0.51; 5.14]), oral cavity (1.42 [-0.08; 4.14]), and thyroid (1.60 [-0.04; 2.22]). CONCLUSION: The study suggested that AI-assisted contouring is safe and beneficial to ROs working in LMICs. Prospective clinical trials on AI-assisted contouring should, however, be conducted upon clinical implementation to confirm the effects.

Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo.

Multiple myeloma is the second most common hematological malignancy in adults and remains an incurable disease. B cell maturation antigen (BCMA)-directed immunotherapy, including T cells bearing chimeric antigen receptors (CARs) and systemically injected bispecific T cell engagers (TCEs), has shown remarkable clinical activity, and several products have received market approval. However, despite promising results, most patients eventually become refractory and relapse, highlighting the need for alternative strategies. Engineered T cells secreting TCE antibodies (STAb) represent a promising strategy that combines the advantages of adoptive cell therapies and bispecific antibodies. Here, we undertook a comprehensive preclinical study comparing the therapeutic potential of T cells either expressing second-generation anti-BCMA CARs (CAR-T) or secreting BCMAxCD3 TCEs (STAb-T) in a T cell-limiting experimental setting mimicking the conditions found in patients with relapsed/refractory multiple myeloma. STAb-T cells recruited T cell activity at extremely low effector-to-target ratios and were resistant to inhibition mediated by soluble BCMA released from the cell surface, resulting in enhanced cytotoxic responses and prevention of immune escape of multiple myeloma cells in vitro. These advantages led to robust expansion and persistence of STAb-T cells in vivo, generating long-lived memory BCMA-specific responses that could control multiple myeloma progression in xenograft models, outperforming traditional CAR-T cells. These promising preclinical results encourage clinical testing of the BCMA-STAb-T cell approach in relapsed/refractory multiple myeloma.

Didactics of written argumentation with Spanish as a Foreign Language (SFL) students at university level in Algeria.

The general objective of this research is to investigate the impact of a program focusing on the development of argumentation techniques on the improvement of critical essays by SFL students at the University of Algiers 2. A quasi-experimental pretest-posttest study was carried out, where the indicators of textual levels obtained by the students were evaluated and compared, both before and after a learning intervention. The study involved 126 students studying SFL at the University of Algiers 2, whose essays were analyzed using Parodi and Núñez's (1999) analysis guidelines, in order to evaluate the students' argumentative competence at the three levels of microstructure, macrostructure and superstructure. Once the results were analyzed, statistically significant differences were observed in the indicators of the macrostructure, and superstructure. Furthermore, an improvement in the post-test means is observed in the indicators of these microstructure. Lastly, the intervention program strengthened students' argumentative abilities, which had a significant effect on their critical essays.

Combined effects of climate change stressors and predators with contrasting feeding-digestion strategies on a mussel species.

We investigated the combined effects of Ocean Warming (OW), Acidification (OA) and predator cues (Non-Consumptive Effects; NCEs) of two predators with contrasting feeding-digestion strategies on the mussel Perumytilus purpuratus. We considered starfish-NCEs (partially external digestion) and snail-NCEs (internal digestion). Mussels were exposed for 13 weeks to cross-factored OA (~500 and ~1400 µatm, pCO2) and OW (~15 and ~20 °C) conditions, in the presence/absence of NCEs from one or both predators. Mussels exposed to both NCEs exhibited smaller length and buoyant weight growth than those under control or snail-NCEs conditions. Mussels exposed to starfish-NCEs exhibited smaller wet mass than control mussels. OW and starfish-NCEs in isolation or combined with snail-NCEs increased mussel oxygen consumption. Byssal biogenesis was affected by the three-factors interaction. Clearance rates were affected by the OW × OA interaction. We suggest that mainly starfish-NCEs, in isolation or interacting with OA or/and OW, can threat mussel traits and the associated community.

Emotions and reading: When reading is the best way to improve skills in adolescents.

In recent years much research on reading competence in different languages has been published in parallel with the interest generated by the results of the PISA and PIRLS reports which were disseminated in the media and which have subsequently garnered the attention of public authorities. Studies that relate reading competence with emotional intelligence, however, are less frequent. This study aims to deepen the relationship between both constructs, using a quasi-experimental longitudinal approach that observes the evolution of 389 high school students in Spain from 16 to 18 years old. Evidence of a direct relationship between reading competence and emotional intelligence was obtained, particularly in the experimental group in which reading habits were stimulated.

Assessing micro-macroparasite selective pressures and anthropogenic disturbance as drivers of immune gene diversity in a Neotropical wild cat.

Anthropogenic environmental change is reducing available habitat for wild species, providing novel selection pressures such as infectious diseases and causing species to interact in new ways. The potential for emerging infectious diseases and zoonoses at the interface between humans, domestic animals, and wild species is a key global concern. In vertebrates, diversity at the major histocompatibility complex MHC is critical to disease resilience, and its study in wild populations provides insights into eco-evolutionary dynamics that human activities alter. In natural populations, variation at MHC loci is partly maintained by balancing selection, driven by pathogenic selective pressures. We hypothesize that MHC genetic diversity differs between guigna populations inhabiting human-dominated landscapes (higher pathogen pressures) versus more natural habitats (lower pathogen pressures). We predict that MHC diversity in guignas would be highest in human-dominated landscapes compared with continuous forest habitats. We also expected to find higher MHC diversity in guignas infected with micro and macro parasites (higher parasite load) versus non infected guignas. We characterized for the first time the genetic diversity at three MHC class I and II exons in 128 wild guignas (Leopardus guigna) across their distribution range in Chile (32-46° S) and Argentina, representing landscapes with varying levels of human disturbance. We integrated MHC sequence diversity with multiple measures of anthropogenic disturbance and both micro and macro parasite infection data. We also assessed signatures of positive selection acting on MHC genes. We found significantly higher MHC class I diversity in guignas inhabiting landscapes where houses were present, and with lower percentage of vegetation cover, and also in animals with more severe cardiorespiratory helminth infection (richness and intensity) and micro-macroparasite co-infection. This comprehensive, landscape-level assessment further enhances our knowledge on the evolutionary dynamics and adaptive potential of vertebrates in the face of emerging infectious disease threats and increasing anthropogenic impacts.

In-depth blood immune profiling of Good syndrome patients.

Introduction: Good syndrome (GS) is a rare adult-onset immunodeficiency first described in 1954. It is characterized by the coexistence of a thymoma and hypogammaglobulinemia, associated with an increased susceptibility to infections and autoimmunity. The classification and management of GS has been long hampered by the lack of data about the underlying immune alterations, a controversy existing on whether it is a unique diagnostic entity vs. a subtype of Common Variable Immune Deficiency (CVID). Methods: Here, we used high-sensitive flow cytometry to investigate the distribution of up to 70 different immune cell populations in blood of GS patients (n=9) compared to age-matched CVID patients (n=55) and healthy donors (n=61). Results: All 9 GS patients displayed reduced B-cell counts -down to undetectable levels (<0.1 cells/µL) in 8/9 cases-, together with decreased numbers of total CD4+ T-cells, NK-cells, neutrophils, and basophils vs. age-matched healthy donors. In contrast, they showed expanded TCRγδ+ T-cells (p ≤ 0.05). Except for a deeper B-cell defect, the pattern of immune cell alteration in blood was similar in GS and (age-matched) CVID patients. In depth analysis of CD4+ T-cells revealed significantly decreased blood counts of naïve, central memory (CM) and transitional memory (TM) TCD4+ cells and their functional compartments of T follicular helper (TFH), regulatory T cells (Tregs), T helper (Th)2, Th17, Th22, Th1/Th17 and Th1/Th2 cells. In addition, GS patients also showed decreased NK-cell, neutrophil, basophil, classical monocyte and of both CD1c+ and CD141+ myeloid dendritic cell counts in blood, in parallel to an expansion of total and terminal effector TCRγδ+ T-cells. Interestingly, those GS patients who developed hypogammaglobulinemia several years after the thymoma presented with an immunological and clinical phenotype which more closely resembled a combined immune humoral and cellular defect, with poorer response to immunoglobulin replacement therapy, as compared to those in whom the thymoma and hypogammaglobulinemia were simultaneously detected. Discussion: Our findings provide a more accurate definition of the immune cell defects of GS patients and contribute to a better discrimination among GS patients between those with a pure B-cell defect vs. those suffering from a combined immunodeficiency with important consequences on the diagnosis and management of the disease.

A cell junction pathology of neural stem cells leads to abnormal neurogenesis and hydrocephalus.

Most cells of the developing mammalian brain derive from the ventricular (VZ) and the subventricular (SVZ) zones. The VZ is formed by the multipotent radial glia/neural stem cells (NSCs) while the SVZ harbors the rapidly proliferative neural precursor cells (NPCs). Evidence from human and animal models indicates that the common history of hydrocephalus and brain maldevelopment starts early in embryonic life with disruption of the VZ and SVZ. We propose that a "cell junction pathology" involving adherent and gap junctions is a final common outcome of a wide range of gene mutations resulting in proteins abnormally expressed by the VZ cells undergoing disruption. Disruption of the VZ during fetal development implies the loss of NSCs whereas VZ disruption during the perinatal period implies the loss of ependyma. The process of disruption occurs in specific regions of the ventricular system and at specific stages of brain development. This explains why only certain brain structures have an abnormal development, which in turn results in a specific neurological impairment of the newborn. Disruption of the VZ of the Sylvian aqueduct (SA) leads to aqueductal stenosis and hydrocephalus, while disruption of the VZ of telencephalon impairs neurogenesis. We are currently investigating whether grafting of NSCs/neurospheres from normal rats into the CSF of hydrocephalic mutants helps to diminish/repair the outcomes of VZ disruption.

Adaptive shell color plasticity during the early ontogeny of an intertidal keystone snail.

We report a mechanism of crypsis present during the vulnerable early post-metamorphic ontogeny (95%) of specimens bearing patterns of shell coloration (dark or light colored) that matched the background coloration provided by patches of Concholepas' most abundant prey (mussels or barnacles respectively). The variation in shell color was positively associated with the color of the most common prey (r = 0.99). In laboratory experiments, shell coloration of C. concholepas depended on the prey-substrate used to induce metamorphosis and for the post-metamorphic rearing. The snail shell color matched the color of the prey offered during rearing. Laboratory manipulation experiments, switching the prey during rearing, showed a corresponding change in snail shell color along the outermost shell edge. As individuals grew and became increasingly indistinguishable from the surrounding background, cryptic individuals had higher survival (71%) than the non cryptic ones (4%) when they were reared in the presence of the predatory crab Acanthocyclus hassleri. These results suggest that the evolution of shell color plasticity during the early ontogeny of C. concholepas, depends on the color of the more abundant of the consumed prey available in the natural habitat where settlement has taken place; this in turn has important consequences for their fitness and survivorship in the presence of visual predators.

Multiple-stressor effects of ocean acidification, warming and predation risk cues on the early ontogeny of a rocky-shore keystone gastropod.

To understand how climate change stressors might affect marine organisms and support adequate projections it is important to know how multiple stressors may be modulated by the presence of other species. We evaluated the direct effects of ocean warming (OW) and ocean acidification (OA) together with non-consumptive effects (NCEs) of the predatory crab Acanthocyclus hassleri on early ontogeny fitness-related traits of the commercially important rocky-shore keystone gastropod Concholepas concholepas. We measured the response of nine traits to these stressors at either the organismal level (survival, growth, feeding rates, tenacity, metabolic rate, calcification rate) or sub-organismal level (nutritional status, ATP-supplying capacity, stress condition). C. concholepas survival was not affected by any of the stressors. Feeding rates were not affected by OW or OA; however, they were reduced in the presence of crab NCEs compared with control conditions. Horizontal tenacity was affected by the OA × NCEs interaction; in the presence of NCEs, OA reduced tenacity. The routine metabolic rate, measured by oxygen consumption, increased significantly with OW. Nutritional status assessment determined that carbohydrate content was not affected by any of the stressors. However, protein content was affected by the OA × NCEs interaction; in the absence of NCEs, OA reduced protein levels. ATP-supplying capacity, measured by citrate synthase (CS) activity, and cellular stress condition (HSP70 expression) were reduced by OA, with reduction in CS activity found particularly at the high temperature. Our results indicate C. concholepas traits are affected by OA and OW and the effects are modulated by predator risk (NCEs). We conclude that some C. concholepas traits are resilient to climate stressors (survival, growth, horizontal tenacity and nutritional status) but others are affected by OW (metabolic rate), OA (ATP-supplying capacity, stress condition), and NCEs (feeding rate). The results suggest that these negative effects can adversely affect the associated community.

Popliteal Vascular Lymph Node Resection in the Rabbit Hindlimb for Secondary Lymphedema Induction.

Lymphedema is a common condition often associated with cancer and its treatment, which leads to damage to the lymphatic system, and current treatments are mostly palliative rather than curative. Its high incidence among oncologic patients indicates the need to study both normal lymphatic function and pathologic dysfunction. To reproduce chronic lymphedema, it is necessary to choose a suitable experimental animal. Attempts to establish animal models are limited by the regenerative capacity of the lymphatic system. Among the potential candidates, the rabbit hindlimb is easy to handle and extrapolate to the human clinical scenario, making it advantageous. In addition, the size of this species allows for better selection of lymphatic vessels for vascularized lymph node resection. In this study, we present a procedure of vascular lymph node resection in the rabbit hindlimb for inducing secondary lymphedema. Anesthetized animals were subjected to circumferential measurement, patent blue V infiltration, and indocyanine green lymphography (ICG-L) using real-time near-infrared fluorescence, a technique that allows the identification of single popliteal nodes and lymphatic channels. Access to the identified structures is achieved by excising the popliteal node and ligating the medial and lateral afferent lymphatics. Special care must be taken to ensure that any lymphatic vessel that joins the femoral lymphatic system within the thigh without entering the popliteal node can be identified and ligated. Postoperative evaluation was performed at 3, 6, and 12 months after induction using circumferential measurements of the hindlimb and ICG-L. As demonstrated during follow-up, the animals developed dermal backflow that was maintained until the 12th month, making this experimental animal useful for novel long-term evaluations in the management of lymphedema. In conclusion, the approach described here is feasible and reproducible. Additionally, during the time window presented, it can be representative of human lymphedema, thus providing a useful research tool.

[Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia]. / Síndrome de Allan-Herndon-Dudley: un diagnóstico a descartar ante todo lactante varón con hipotonía sin causa determinada.

Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates. OBJECTIVE: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause. CLINICAL CASE: A 10-month-old male infant with severe axial and peripheral hypotonia, global weakness with little spontaneous mobility, without head support or stable sitting. Complete metabolic and peripheral neurophysiological studies were performed. Genetic studies for spinal muscular atrophy, Prader Willi syndrome, and myotonic dystrophy were also performed. The trio exome analysis detected a probably pathogenic variant c.359C>T;p.(Ser120Phe), hemizygous in exon 1 of the SLC16A2 gene, inherited from the mother. Thyroid abnormalities as increased free triiodothyronine (T3) and thyroid-stimulating hormone (TSH), and delayed myelination were ob served. CONCLUSIONS: MCT8 deficiency should be considered in the case of the male infant with unex plained hypotonia and weakness without a determined cause. The diagnosis is guided by a thyroid profile including free T3 hormone, because it presents a characteristic thyroid profile with decreased free thyroxine (T4), increased free T3, and normal or slightly elevated TSH levels. In this case, the implementation of the trio exome analysis allows establishing an early certain diagnosis.

Molecular cross talk between misfolded proteins in animal models of Alzheimer's and prion diseases.

The central event in protein misfolding disorders (PMDs) is the accumulation of a misfolded form of a naturally expressed protein. Despite the diversity of clinical symptoms associated with different PMDs, many similarities in their mechanism suggest that distinct pathologies may cross talk at the molecular level. The main goal of this study was to analyze the interaction of the protein misfolding processes implicated in Alzheimer's and prion diseases. For this purpose, we inoculated prions in an Alzheimer's transgenic mouse model that develop typical amyloid plaques and followed the progression of pathological changes over time. Our findings show a dramatic acceleration and exacerbation of both pathologies. The onset of prion disease symptoms in transgenic mice appeared significantly faster with a concomitant increase on the level of misfolded prion protein in the brain. A striking increase in amyloid plaque deposition was observed in prion-infected mice compared with their noninoculated counterparts. Histological and biochemical studies showed the association of the two misfolded proteins in the brain and in vitro experiments showed that protein misfolding can be enhanced by a cross-seeding mechanism. These results suggest a profound interaction between Alzheimer's and prion pathologies, indicating that one protein misfolding process may be an important risk factor for the development of a second one. Our findings may have important implications to understand the origin and progression of PMDs.

Latent Inhibition as a Biological Basis of Creative Capacity in Individuals Aged Nine to 12.

This study focuses on latent inhibition, a mechanism behind selective attention, as the biological basis of creativity in schoolchildren. The main objective of this study is to know if low levels of attention positively affect the levels of creativity manifested in students between the ages of nine and 12. The design of this study is non-experimental with an explanatory-correlational cross-sectional quantitative approach. In order to achieve the objective suggested, several education centers located in Murcia were selected, in which 476 students took part in a creativity test (PIC-N), an attention test (D2), and another test about intelligence depending on the educational level (BADYG/E2r or BADYG/E3r). The results obtained showed that selective attention was negatively correlated with graphic creativity, understanding that behind it lies the latent inhibition, and that when certain levels of intelligence are present, this negative correlation increases. In this way, the simultaneous existence of creative and inattentive subjects is demonstrated.