Analysing the effect caused by increasing the molecular volume in M1-AChR receptor agonists and antagonists: a structural and computational study.

M1 muscarinic acetylcholine receptor (M1-AChR), a member of the G protein-coupled receptors (GPCR) family, plays a crucial role in learning and memory, making it an important drug target for Alzheimer's disease (AD) and schizophrenia. M1-AChR activation and deactivation have shown modifying effects in AD and PD preclinical models, respectively. However, understanding the pharmacology associated with M1-AChR activation or deactivation is complex, because of the low selectivity among muscarinic subtypes, hampering their therapeutic applications. In this regard, we constructed two quantitative structure-activity relationship (QSAR) models, one for M1-AChR agonists (total and partial), and the other for the antagonists. The binding mode of 59 structurally different compounds, including agonists and antagonists with experimental binding affinity values (pKi), were analyzed employing computational molecular docking over different structures of M1-AChR. Furthermore, we considered the interaction energy (Einter), the number of rotatable bonds (NRB), and lipophilicity (ilogP) for the construction of the QSAR model for agonists (R2 = 89.64, QLMO2 = 78, and Qext2 = 79.1). For the QSAR model of antagonists (R2 = 88.44, QLMO2 = 82, and Qext2 = 78.1) we considered the Einter, the fraction of sp3 carbons fCsp3, and lipophilicity (MlogP). Our results suggest that the ligand volume is a determinant to establish its biological activity (agonist or antagonist), causing changes in binding energy, and determining the affinity for M1-AChR.

Targeted therapy for immune mediated skin diseases. What should a dermatologist know?

BACKGROUND: Molecularly targeted therapies, such as monoclonal antibodies (mAbs) and Janus Kinase inhibitors (JAKis), have emerged as essential tools in the treatment of dermatological diseases. These therapies modulate the immune system through specific signaling pathways, providing effective alternatives to traditional systemic immunosuppressive agents. This review aims to provide an updated summary of targeted immune therapies for inflammatory skin diseases, considering their pathophysiology, efficacy, dosage, and safety profiles. METHODS: The review followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. A systematic search was conducted on PubMed over the past 10 years, focusing on randomized clinical trials, case reports, and case series related to targeted immune therapies in dermatology. Eligibility criteria were applied, and data were extracted from each study, including citation data, study design, and results. RESULTS: We identified 1360 non-duplicate articles with the initial search strategy. Title and abstract review excluded 1150, while a full-text review excluded an additional 50 articles. The review included 143 studies published between 2012 and 2022, highlighting 39 drugs currently under investigation or in use for managing inflammatory skin diseases. STUDY LIMITATIONS: The heterogeneity of summarized information limits this review. Some recommendations originated from data from clinical trials, while others relied on retrospective analyses and small case series. Recommendations will likely be updated as new results emerge. CONCLUSION: Targeted therapies have revolutionized the treatment of chronic skin diseases, offering new options for patients unresponsive to standard treatments. Paradoxical reactions are rarely observed. Further studies are needed to fully understand the mechanisms and nature of these therapies. Overall, targeted immune therapies in dermatology represent a promising development, significantly improving the quality of life for patients with chronic inflammatory skin diseases.

Diseño curricular de un diplomado en enseñanza de fisiología / Curricular design of a physiology training diploma course

Introducción: Los conceptos fundamentales de la fisiología representan un avance significativo en la pedagogía de esta disciplina, y proporcionan una base sólida para la enseñanza y el aprendizaje. Estos conceptos enfatizan los principios metodológicos y disciplinarios necesarios para que los estudiantes comprendan la fisiología de manera efectiva. Además, guían tanto a estudiantes como a profesores, e influyen en el diseño de programas académicos de pregrado y posgrado. Materiales y métodos: Diseño curricular basado en las necesidades formativas de docentes de la carrera de médico cirujano de México. El análisis de necesidades formativas se desarrolló según el perfil de egreso de médicos mexicanos. Resultados: Como resultado primario, se obtuvo el programa académico de posgrado llamado ‘Diplomado en enseñanza de fisiología’, con un enfoque constructivista y que utiliza los conceptos fundamentales de la fisiología como su piedra angular. Este programa ha estado en funcionamiento durante cuatro años y ha capacitado a 35 profesores de más de 10 universidades en México. Está estructurado en cinco etapas de formación, que abarcan desde la ciencia del aprendizaje hasta la planificación de sesiones teóricas y prácticas, y en cada etapa se explora y se reflexiona sobre los conceptos fundamentales de la fisiología. Conclusiones: Los académicos valoran positivamente la inclusión de los conceptos fundamentales de la fisiología como ejes de enseñanza y aprendizaje trasversales.(AU)

Introduction: The core concepts of physiology represent a significant advancement in the pedagogy of this discipline, providing a solid foundation for teaching and learning. These concepts emphasize the methodological and disciplinary principles necessary for students to effectively understand physiology. Moreover, they guide both students and teachers, influencing the design of undergraduate and postgraduate academic programs.Materials and methods: Curricular design based on the training needs of professors in the medical career in Mexico; the analysis of training needs was developed according to the profile of graduating Mexican doctors. Results: The primary outcome was the academic program for the postgraduate program called ‘Certificate in Physiology Teaching’, with a constructivist approach that uses the core concepts of physiology as its cornerstone. This program has been in operation for four years and has trained 35 professors from more than ten universities in Mexico. It is structured in five training stages that range from the science of learning to the planning of theoretical and practical sessions, and in each stage, the core concepts of physiology are explored and reflected upon. Conclusions: Academics positively value the inclusion of the core concepts of physiology as cross-cutting teaching andlearning axes.(AU)

Clavulanic Acid and its Potential Therapeutic Effects on the Central Nervous System.

Clavulanic acid (CLAV) is a non-antibiotic ß-lactam that has been used since the late 1970s as a ß-lactamase inhibitor in combination with amoxicillin, another ß-lactam with antibiotic activity. Its long-observed adverse reaction profile allows it to say that CLAV is a well-tolerated drug with mainly mild adverse reactions. Interestingly, in 2005, it was discovered that ß-lactams enhance the astrocytic expression of GLT-1, a glutamate transporter essential for maintaining synaptic glutamate homeostasis involved in several pathologies of the central nervous system (CNS). This finding, along with a favorable pharmacokinetic profile, prompted the appearance of several studies that intended to evaluate the effect of CLAV in preclinical disease models. Studies have revealed that CLAV can increase GLT-1 expression in the nucleus accumbens (NAcc), medial prefrontal cortex (PFC), and spinal cord of rodents, to affect glutamate and dopaminergic neurotransmission, and exert an anti-inflammatory effect by modulating the levels of the cytokines TNF-α and interleukin 10 (IL-10). CLAV has been tested with positive results in preclinical models of epilepsy, addiction, stroke, neuropathic and inflammatory pain, dementia, Parkinson's disease, and sexual and anxiety behavior. These properties make CLAV a potential therapeutic drug if repurposed. Therefore, this review aims to gather information on CLAV's effect on preclinical neurological disease models and to give some perspectives on its potential therapeutic use in some diseases of the CNS.

La autoevaluación basada en criterios como elemento de evaluación en asignaturas de carga cognitiva elevada / Self-assessment based on criteria as an evaluation element in subjects with a high cognitive load

Introducción: La autoevaluación se ha definido como el proceso mediante el cual los alumnos deciden si han alcanzado o no los estándares definidos. La autoevaluación es una herramienta valiosa para identificar debilidades y fortalezas en los estudiantes de Medicina. Objetivo: Comparar los resultados de una prueba de autoevaluación basada en criterios con los resultados de un examen estandarizado para evaluar conocimientos disciplinares en Fisiología. Sujetos y métodos: En este trabajo desarrollamos y aplicamos una herramienta de autoevaluación a estudiantes de segundo año de la carrera de Medicina en la asignatura de Fisiología de la Facultad de Medicina de la Universidad Nacional Autónoma de México. Luego recopilamos comentarios y los dividimos en calificaciones clasificadas como ‘calificaciones altas’ y ‘calificaciones bajas’. Finalmente, comparamos los resultados de la autoevaluación con los de una prueba objetiva (prueba estandarizada) que evalúa los conocimientos disciplinares de fisiología. Resultados: Los alumnos que consideran que han realizado un esfuerzo y trabajo constante durante el curso se valoran mejor que los alumnos que no lo hacen. Por otro lado, encontramos diferencias significativas entre la prueba objetiva y la autoevaluación. Conclusiones: La autoevaluación basada en criterios puede ayudar a evaluar cualidades más allá del conocimiento disciplinario.(AU)

Introduction: Self-assessment has been defined as the process by which students decide whether or not they haveachieved the defined standards. Self-assessment is a valuable tool to identify weaknesses and strengths in medical students. Objective: To compare the results of a self-assessment test based on criteria with the results of a standardized exam to assess disciplinary knowledge in physiology. Subjects and methods. In this work we developed and applied a self-assessment tool to second-year medical students in the physiology course of the Faculty of Medicine of the National Autonomous University of Mexico. We then collected feedback and divided it into ratings categorized as: ‘high scores’ and ‘low scores.’ Finally, we compared the results of the self-assessment with those of an objective test (standardized test) that assesses disciplinary knowledge of physiology. Result: Students who consider that they have made a constant effort and work during the course value themselves better than students who do not. On the other hand, we found significant differences between the objective test and the selfassessment. Conclusions: Criteria-based self-assessment can help assess qualities beyond disciplinary knowledge.(AU)

Triclabendazole resistance in Fasciola hepatica: First report in sheep from the Santa Cruz province, Argentinian Patagonia.

In the fall of 2022, decreased triclabendazole (TCBZ) efficacy against F. hepatica was suspected in a sheep farm located in the Santa Cruz province, Argentinian Patagonia. Since TCBZ-resistance in F. hepatica has never been reported in this province, this study aimed to confirm potential TCBZ-resistance in F. hepatica and to evaluate the efficacy of closantel (CLO) and nitroxinil (NTX), through faecal egg count reduction test (FECRT), and the efficacy of albendazole (ABZ) through the in vitro egg hatch test (EHT) in sheep. Sixty-eight (68) animals were selected from a herd of eighty (80) female Merino naturally infected with F. hepatica based on eggs per gram of F. hepatica (EPGFh) counts and assigned into four (4) groups (n = 17 per group): Group Control, animals did not receive anthelmintic treatment; Group TCBZ, animals were orally treated with TCBZ (12 mg/kg); Group CLO, animals were orally treated with CLO (10 mg/kg); and Group NTX, animals were subcutaneously treated with NTX (10 mg/kg). The fluke egg output was monitored on days 0 and 21 post-treatment. For the EHT, liver fluke eggs were isolated from faecal samples (approx. 50 g) collected from animals of the control group. TCBZ efficacy against liver fluke was 53.4%, confirming the presence of TCBZ-resistant isolates on the farm. CLO and NTX were highly effective (100%) for the treatment of F. hepatica on this farm. The EHT was carried out in two different laboratories, in which was observed an ABZ efficacy of 95.8 (Bariloche) and 96.5% (Tandil). These results indicate the ABZ susceptibility of this F. hepatica isolate and the inter-laboratory precision of the test.

Visible-Light-Active Iodide-Doped BiOBr Coatings for Sustainable Infrastructure.

The search for efficient materials for sustainable infrastructure is an urgent challenge toward potential negative emission technologies and the global environmental crisis. Pleasant, efficient sunlight-activated coatings for applications in self-cleaning windows are sought in the glass industry, particularly those produced from scalable technologies. The current work presents visible-light-active iodide-doped BiOBr thin films fabricated using aerosol-assisted chemical vapor deposition. The impact of dopant concentration on the structural, morphological, and optical properties was studied systematically. The photocatalytic properties of the parent materials and as-deposited doped films were evaluated using the smart ink test. An optimized material was identified as containing 2.7 atom % iodide dopant. Insight into the photocatalytic behavior of these coatings was gathered from photoluminescence and photoelectrochemical studies. The optimum photocatalytic performance could be explained from a balance between photon absorption, charge generation, carrier separation, and charge transport properties under 450 nm irradiation. This optimized iodide-doped BiOBr coating is an excellent candidate for the photodegradation of volatile organic pollutants, with potential applications in self-cleaning windows and other surfaces.

Photo-induced enhanced Raman spectroscopy as a probe for photocatalytic surfaces.

Photo-induced enhanced Raman spectroscopy (PIERS) has emerged as a highly sensitive surface-enhanced Raman spectroscopy (SERS) technique for the detection of ultra-low concentrations of organic molecules. The PIERS mechanism has been largely attributed to UV-induced formation of surface oxygen vacancies (Vo) in semiconductor materials, although alternative interpretations have been suggested. Very recently, PIERS has been proposed as a surface probe for photocatalytic materials, following Vo formation and healing kinetics. This work establishes comparison between PIERS and Vo-induced SERS approaches in defected noble-metal-free titanium dioxide (TiO2-x) films to further confirm the role of Vo in PIERS. Upon application of three post-treatment methods (namely UV-induction, vacuum annealing and argon etching), correlation of Vo kinetics and distribution could be established. A proposed mechanism and further discussion on PIERS as a probe to explore photocatalytic materials are also presented. This article is part of the theme issue 'Exploring the length scales, timescales and chemistry of challenging materials (Part 2)'.

Nanomechanical properties of SSTSAA microcrystals are dominated by the inter-sheet packing.

Amyloid fibrils have been associated with human disease for many decades, but it has also become apparent that they play a functional, non-disease-related role in e.g. bacteria and mammals. Moreover, they have been shown to possess interesting mechanical properties that can be harnessed for future man-made applications. Here, the mechanical behaviour of SSTSAA microcrystals has been investigated. The SSTSAA peptide organization in these microcrystals has been related to that in the corresponding amyloid fibrils. Using high-pressure X-ray diffraction experiments, the bulk modulus K, which is the reciprocal of the compressibility ß, has been calculated to be 2.48 GPa. This indicates that the fibrils are tightly packed, although the packing of most native globular proteins is even better. It is shown that the value of the bulk modulus is mainly determined by the compression along the c-axis, that relates to the inter-sheet distance in the fibrils. These findings corroborate earlier data obtained by AFM and molecular dynamics simulations that showed that mechanical resistance varies according to the direction of the applied strain, which can be related to packing and hydrogen bond contributions. Pressure experiments provide complementary information to these techniques and help to acquire a full mechanical characterization of biomolecular assemblies. This article is part of the theme issue 'Exploring the length scales, timescales and chemistry of challenging materials (Part 2)'.

Phase Quantification of Heterogeneous Surfaces Using DFT-Simulated Valence Band Photoemission Spectra.

Quantifying the crystallographic phases present at a surface is an important challenge in fields such as functional materials and surface science. X-ray photoelectron spectroscopy (XPS) is routinely employed in surface characterization to identify and quantify chemical species through core line analysis. Valence band (VB) spectra contain characteristic but complex features that provide information on the electronic density of states (DoS) and thus can be understood theoretically using density functional theory (DFT). Here, we present a method of fitting experimental photoemission spectra with DFT models for quantitative analysis of heterogeneous systems, specifically mapping the anatase to rutile ratio across the surface of mixed-phase TiO2 thin films. The results were correlated with mapped photocatalytic activity measured using a resazurin-based smart ink. This method allows large-scale functional and surface composition mapping in heterogeneous systems and demonstrates the unique insights gained from DFT-simulated spectra on the electronic structure origins of complex VB spectral features.

Reflections on the design of an ultrasound study program in medical undergraduate / Reflexiones sobre el diseño de un programa de estudio de ultrasonido en el grado de medicina

Introduction: The use of didactic tools for teaching basic sciences in the medical career focuses on anatomical models, electrodiagnostic equipment, and simulation. Only some study programs incorporate images for teaching basic sciences; some of the reasons are the cost of the ultrasound equipment. However, many medical schools have the infrastructure to do so. Materials and methods: We conducted a review of the scientific literature in the Scopus, Web of Science, and Google Academic databases, after which the researchers conducted discussion sessions to select the main ideas that would help build the educational proposal. Results: Describe a proposal for curricular design for creating training programs and teacher training that allows maximizing the use of ultrasound as a teaching tool for the basic sciences of the medical career. Conclusion: The best way to strengthen the teaching of medical sciences is through constant academic training, both in disciplinary content and in teaching. Only in this way can we face the great need to train doctors who are very aware of their social responsibility.(AU)

Introducción: El uso de herramientas didácticas para la enseñanza de las ciencias básicas en la carrera de medicina se centra en modelos anatómicos, equipos de electrodiagnóstico y simulación. Solo algunos programas de estudio incorporan imágenes para la enseñanza de las ciencias básicas; algunas de las razones son el costo del equipo de ultrasonido. Sin embargo, muchas escuelas de medicina tienen la infraestructura para hacerlo. Materiales y métodos: Se realizó una revisión de la literatura científica en las bases de datos Scopus, Web of Science y Google Academic, tras lo cual los investigadores realizaron sesiones de discusión para seleccionar las ideas principales que ayudarían a construir la propuesta educativa. Resultados: Describir una propuesta de diseño curricular para la creación de programas de formación y formación docente que permita maximizar el uso de la ecografía como herramienta didáctica de las ciencias básicas de la carrera de medicina. Conclusión: La mejor manera de fortalecer la enseñanza de las ciencias médicas es a través de la formación académica constante, tanto en los contenidos disciplinares como en la docencia. Solo así podremos afrontar la gran necesidad de formar médicos muy conscientes de su responsabilidad social.(AU)

Perceived academic stress in Mexican medical students. The role of sex emotional distress, burnout, academic-social support, current abuse experiences, and coping strategies / Percepción del estrés académico en estudiantes de medicina mexicanos. El papel del sexo, distrés emocional, burnout, apoyo académico-social, experiencias actual es de abuso y estrategias de afrontamiento

Abstract Introduction Academic stress is a common problem among medical students that has a negative physiological, social, and learning impact. Perceived academic stress indicates how stressed a student is about academic issues over a given period of time and the ability to handle that stress. Objective To determine the prevalence of PAS and evaluate possible risk factors, focusing on sex differences, burnout, emotional distress, academic-social support, and coping strategies. Method A cross-sectional, retrospective, and comparative study was conducted through an online survey with medical students (MS) willing to participate anonymously. Results All students reported PAS and the majority to a moderate-severe degree. Comparing the presence of abuse within the academic environment between men and women, we found differences in the frequency of reporting emotional abuse and sexual. Also, we found differences in perceived academic social support from teachers and family members. Multiple logistic regression analysis showed sex and current sexual abuse inside school had the strongest association with PAS in MS, followed by a family history of depression and perceived less academic social support from family. Discussion and conclusion Timely identification of individuals at-risk will be critical to establish preventive strategies to limit the impact of PAS in MS, stress management programs, training coping skills, and offer prompt therapeutic alternatives when needed.

Resumen Introducción El estrés académico es un problema común entre los estudiantes de medicina que tiene un impacto negativo a nivel fisiológico, social y de aprendizaje. El estrés académico percibido (PAS) indica lo estresado que está un estudiante por cuestiones académicas durante un periodo de tiempo determinado y la capacidad para manejar ese estrés. Objetivo Determinar la prevalencia del PAS y evaluar los posibles factores de riesgo, centrándose en las diferencias por sexo, burnout, el malestar emocional, el apoyo académico-social y las estrategias de afrontamiento. Método Se realizó un estudio transversal, retrospectivo y comparativo a través de una encuesta en línea con estudiantes de medicina dispuestos a participar de forma anónima. Resultados Todos los estudiantes reportaron PAS y la mayoría en un grado moderado-severo. Comparando la presencia de maltrato dentro del ámbito académico entre hombres y mujeres, encontramos diferencias en la frecuencia de denuncia de maltrato emocional y sexual. Asimismo, encontramos diferencias en el apoyo social académico percibido por parte de docentes y familiares. El análisis de regresión logística múltiple mostró que el sexo y el abuso sexual actual dentro de la escuela tenían la asociación más fuerte con PAS, seguidos por antecedentes familiares de depresión y menos apoyo social académico percibido por parte de la familia. Discusión y conclusión La identificación oportuna de las personas en riesgo será fundamental para establecer estrategias preventivas para limitar el impacto de PAS, programas de manejo del estrés, capacitación en habilidades de afrontamiento y ofrecer alternativas terapéuticas rápidas cuando sea necesario.

Non-Canonical WNT/Wnt5a Pathway Activity in Circulating Monocytes of Untreated Psoriatic Patients: An Exploratory Study of Its Association with Inflammatory Cytokines and Cardiovascular Risk Marker-ADAMTS7.

The leading cause of death in psoriasis is cardiovascular disease. The determinants that induce the increase in this risk are not known. The systemic inflammatory process is dependent on lymphocytes and monocytes, as has been proposed. However, adaptation modules such as mTOR have recently been mentioned as having a role. Other factors, such as WNT and its non-canonical WNT5a-inducing pathway, are relevant in inflammation, cell migration, and neoangiogenesis. Thus, we studied circulating monocytes from untreated severe psoriatic patients and characterized inflammatory cytokines, chemokines, mTOR activity, and the cardiovascular risk marker ADAMTS7. Peripheral blood from ten severely psoriatic patients (Psoriasis severity index greater than 10) was extracted and age- and sex-matched with healthy subjects. Surface and intracellular flow cytometry were performed for cytokine, chemokine receptors, and mTOR activity. ADAMTS7 was measured using ELISA. Psoriatic patients had a higher frequency of WNT5a+ cells in monocytes, which also had higher levels of IL-1ß, IL-6, CXCR3, CCR2, and phosphorylated S6R protein. We found that M1 monocytes are dominant in the WNT5a+ cell group, and intracellular levels of WNT5a were also augmented. Levels of WNT5a were correlated with ADAMTS7, a blood marker related to the pathogenesis of atheromatosis. WNT5a could be relevant to the cardiovascular risk of psoriatic patients considering its association with higher levels of inflammatory cytokines, chemokine receptors and the pro-atherogenic profile of circulating monocytes.

New Markers for Cardiovascular Disease in Psoriatic Patients: Preliminary Study on Monocyte Phenotype, ADAMTS7, and mTOR Activity.

Psoriasis is a skin disease with occasional involvement of non-cutaneous territories. Beyond the usual, cardiovascular events are more frequent in these patients and correlate only partially with disease activity, suggesting the presence of other unknown factors. We selected ten psoriatic patients without treatment in the last year and matched them for age and gender with eleven healthy subjects. Ficoll-extracted mononuclear cells were analyzed with flow cytometry for monocyte surface phenotype markers, intracellular NFκB/inflammasome-dependent interleukins, and chemotaxis receptor CXCR3. Using ELISA, patient serum was evaluated for ADAMTS7 and CXCL10. Inflammatory M1 monocytes showed higher levels of IL-1ß and IL-6 in psoriatic patients. M2 monocytes also showed higher levels of intracellular inflammatory cytokines. Nevertheless, IL-6 values were higher compared to other monocytes and IL-1ß. The mTORC activation markers ADAMTS7 and S6Rp were higher in psoriatic patients than in healthy controls. In psoriatic patients, serum levels of ADAMTS7 were elevated, and M2 monocytes showed a distinct inflammatory response with higher relative levels of NFκB-dependent IL-6 and less activity of the CXCR3-CXCL10 chemotactic pathway. These data suggest pathways with potential markers for prediction and early detection of cardiovascular risk in psoriatic patients.

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

BACKGROUND: Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and protein recycling regulation. Our aim is to contribute to the characterisation of SYS pathophysiology at clinical, genetic and molecular levels. METHODS: We performed an extensive phenotypic and mutational revision of previously reported patients with SYS. We analysed the secretion levels of amyloid-ß 1-40 peptide (Aß1-40) and performed targeted metabolomic and transcriptomic profiles in fibroblasts of patients with SYS (n=7) compared with controls (n=11). We also transfected cell lines with vectors encoding wild-type (WT) or mutated MAGEL2 to assess stability and subcellular localisation of the truncated protein. RESULTS: Functional studies show significantly decreased levels of secreted Aß1-40 and intracellular glutamine in SYS fibroblasts compared with WT. We also identified 132 differentially expressed genes, including non-coding RNAs (ncRNAs) such as HOTAIR, and many of them related to developmental processes and mitotic mechanisms. The truncated form of MAGEL2 displayed a stability similar to the WT but it was significantly switched to the nucleus, compared with a mainly cytoplasmic distribution of the WT MAGEL2. Based on the updated knowledge, we offer guidelines for the clinical management of patients with SYS. CONCLUSION: A truncated MAGEL2 protein is stable and localises mainly in the nucleus, where it might exert a pathogenic neomorphic effect. Aß1-40 secretion levels and HOTAIR mRNA levels might be promising biomarkers for SYS. Our findings may improve SYS understanding and clinical management.

Tinea faciei por Trichophyton violaceum: primer caso alóctono reportado en Chile

Trichophyton violaceum es un dermatofito antropofílico endémico en África, Europa, Centroamérica y China. El incremento de los fenómenos de movilidad humana ha contribuido a su aparición en áreas no endémicas. Su principal manifestación clínica es la tinea capitis, seguida por la tinea corporis. En la población pediátrica afecta con mayor frecuencia el cuero cabelludo; y en adultos, la piel glabra. Presentamos el primer caso en Chile de tinea causada por T violaceum. Correspondió a una mujer chilena de 21 años que presentó placas faciales de un mes de evolución después de un viaje a Tanzania, África, sin respuesta a tratamientos médicos previos. Se sospechó una dermatofitosis alóctona y mediante cultivos especiales, se identificó una colonia de crecimiento lento, coloración violeta-negruzca, superficie cerosa y rugosa, con vellosidades aterciopeladas; compatible con T violaceum. Se confirmó mediante secuenciación de ADN ribosomal amplificando la región ITS. Se trató con terbinafina oral con respuesta clínica completa.

Trichophyton violaceum is an anthropophilic dermatophyte endemic in Africa, Europe, Central America and China. The increase in human mobility has recently contributed to the appearance in non-endemic areas. The main clinical manifestation is tinea capitis followed by tinea corporis. We present the first case in Chile of tinea caused by T violaceum. The case was a 21 year-old Chilean woman who presented asymptomatic facial plaques one month after arriving from Tanzania, Africa, with no clinical response to previous medical treatments. An allochthonous dermatophytosis was suspected and with special cultures, a slow-growing colony was identified with a violet-blackish color, waxy and rough surface, and velvety villi; all characteristics of T violaceum. The diagnosis was confirmed by ribosomal DNA sequencing amplifying the ITS region. She was treated with oral terbinafine obtaining a complete clinical response.

Darier disease: the use of dermoscopy in monitoring acitretin treatment

Abstract Darier disease is an uncommon autosomal dominant inherited disease, caused by a mutation in the ATP2A2 gene. The clinical findings are hyperkeratotic papules on the trunk, scalp, face, and neck, maceration of intertriginous areas, palmar pits, whitish papules on the oral mucosa and nail abnormalities. The main histopathologic findings are acantholysis and dyskeratotic keratinocytes. Dermatoscopic features are comedo-like openings with a central polygonal yellowish/brownish structure, surrounded by a whitish halo. First-line treatment includes acitretin. Five reports have been published describing Darier disease dermatoscopic findings. Herein, we report for the first time a patient under acitretin treatment and dermatoscopic follow-up.