Decalcification-free technique on the analysis of dental pulp tissue: histological and immunohistochemical analysis.

BACKGROUND: Histological techniques are essential for the microscopic study and investigation of the human dental pulp. The aim of this study was to evaluate the impact of decalcification-free technique by examining dental pulp morphology by histological staining with haematoxylin and eosin and immunohistochemistry. MATERIALS AND METHODS: The sample consisted of 30 healthy third molars extracted for orthodontic indication, the pulp tissue was obtained by removing the mineralized tissues, separating the enamel and dentine and by marking with a flexible diamond disc on the coronal surface and longitudinal axis of the root. These guides made it possible to separate the fragments and obtain the pulp tissue for fixation and staining with H&E and subsequent immunohistochemistry with CD34 and S-100 antibodies. RESULTS: The technique showed preservation of pulp morphology with adequate preservation of microscopic structures. No alterations in tissue viability were observed. The staining allowed an accurate assessment of vascular and nervous components by means of CD34 and S-100 markers, respectively. CONCLUSIONS: This technique allows preservation of pulp tissue, maintaining viable tissue for histological analysis and immunohistochemistry tests, as well as reducing sample processing time.

Detecting Class 1 Integrons and Their Variable Regions in Escherichia coli Whole-Genome Sequences Reported from Andean Community Countries.

Various genetic elements, including integrons, are known to contribute to the development of antimicrobial resistance. Class 1 integrons have been identified in E. coli isolates and are associated with multidrug resistance in countries of the Andean Community. However, detailed information on the gene cassettes located on the variable regions of integrons is lacking. Here, we investigated the presence and diversity of class 1 integrons, using an in silico approach, in 2533 whole-genome sequences obtained from EnteroBase. IntFinder v1.0 revealed that almost one-third of isolates contained these platforms. Integron-bearing isolates were associated with environmental, food, human, and animal origins reported from all countries under scrutiny. Moreover, they were identified in clones known for their pathogenicity or multidrug resistance. Integrons carried cassettes associated with aminoglycoside (aadA), trimethoprim (dfrA), cephalosporin (blaOXA; blaDHA), and fluoroquinolone (aac(6')-Ib-cr; qnrB) resistance. These platforms showed higher diversity and larger numbers than previously reported. Moreover, integrons carrying more than three cassettes in their variable regions were determined. Monitoring the prevalence and diversity of genetic elements is necessary for recognizing emergent patterns of resistance in pathogenic bacteria, especially in countries where various factors are recognized to favor the selection of resistant microorganisms.

Overexpression of miR-25 Downregulates the Expression of ROBO2 in Idiopathic Intellectual Disability.

Idiopathic intellectual disability (IID) encompasses the cases of intellectual disability (ID) without a known cause and represents approximately 50% of all cases. Neural progenitor cells (NPCs) from the olfactory neuroepithelium (NEO) contain the same information as the cells found in the brain, but they are more accessible. Some miRNAs have been identified and associated with ID of known etiology. However, in idiopathic ID, the effect of miRNAs is poorly understood. The aim of this study was to determine the miRNAs regulating the expression of mRNAs that may be involved in development of IID. Expression profiles were obtained using NPC-NEO cells from IID patients and healthy controls by microarray. A total of 796 miRNAs and 28,869 mRNAs were analyzed. Several miRNAs were overexpressed in the IID patients compared to controls. miR-25 had the greatest expression. In silico analysis showed that ROBO2 was the target for miR-25, with the highest specificity and being the most down-regulated. In vitro assay showed an increase of miR-25 expression induced a decrease in ROBO2 expression. In neurodevelopment, ROBO2 plays a crucial role in episodic learning and memory, so its down-regulation, caused by miR-25, could have a fundamental role in the intellectual disability that, until now, has been considered idiopathic.

First Report of Antibiotic Resistance Markers cfiA and nim Among Bacteroides fragilis Group Strains in Ecuadorian Patients.

In recent years, increasing resistance of Bacteroides fragilis to several antibiotics has been reported in different countries. The aim of this study was to evaluate the antibiotic resistance profiles of Bacteroides spp. isolated from clinical samples by phenotypic and molecular methods. A total of 40 nonrepetitive isolates of the B. fragilis group were studied from 2018 to 2019. The species was identified by API 20A system. The minimum inhibitory concentrations (MICs) were determined by Sensititre anaerobe MIC plate. The presence of the nim and cfiA genes was checked by conventional PCR. The association between genes and insertion sequence (IS) was performed by whole genome sequencing. Eleven isolates were categorized as metronidazole-resistant and only 2 isolates harbored the nim gene. Five isolates were imipenem-resistant, but cfiA gene was detected in two isolates. cfiA gene was closely related to the cfiA-4 allele and associated with IS614B. The nim gene was not related to any nim gene type and was considered a new variant named nimL. IS612 was found upstream of nimL gene. In view of the scarcity of data on B. fragilis, there is a need to surveil antibiotic resistance levels and molecular mechanisms to implement better antimicrobial therapies against this important group of bacteria.

An Overview of the Use and Applications of Limosilactobacillus fermentum in Broiler Chickens.

The implementation of government regulations on antibiotic use, along with the public's concern for drug resistance, has strengthened interest in developing alternatives not only aimed at preserving animal production but also at reducing the effects of pathogenic infections. Probiotics, in particular, are considered microorganisms that induce health benefits in the host after consumption of adequate amounts; they have been established as a potential strategy for improving growth, especially by stimulating intestinal homeostasis. Probiotics are commonly associated with lactic acid bacteria, and Limosilactobacillus fermentum is a well-studied species recognized for its favorable characteristics, including adhesion to epithelial cells, production of antimicrobial compounds, and activation of receptors that prompt the transcription of immune-associated genes. Recently, this species has been used in animal production. Different studies have shown that the application of L. fermentum strains not only improves the intestinal ecosystem but also reduces the effects caused by potentially pathogenic microorganisms. These studies have also revealed key insights into the mechanisms behind the actions exerted by this probiotic. In this manuscript, we aim to provide a concise overview of the effects of L. fermentum administration on broiler chicken health and performance.

Erythrose inhibits the progression to invasiveness and reverts drug resistance of cancer stem cells of glioblastoma.

Glioblastoma (GBM) is the most frequent brain cancer and more lethal than other cancers. Characteristics of this cancer are its high drug resistance, high recurrence rate and invasiveness. Invasiveness in GBM is related to overexpression of matrix metalloproteinases (MMPs) which are mediated by wnt/ß-catenin and induced by the activation of signaling pathways extracellularly activated by the cytokine neuroleukin (NLK) in cancer stem cells (CSC). Therefore, in this work we evaluated the effect of the tetrose saccharide, erythrose (Ery), a NLK inhibitor of invasiveness and drug sensitization in glioblastoma stem cells (GSC). GSC were obtained from parental U373 cell line by a CSC phenotype enrichment protocol based on microenvironmental stress conditions such as hypoxia, hipoglycemia, drug exposition and serum starvation. Enriched fraction of GSC overexpressed the typical markers of brain CSC: low CD133+ and high CD44; in addition, epithelial to mesenchyme transition (EMT) markers and MMPs were increased several times in GSC vs. U373 correlating with higher invasiveness, elongated and tubular mitochondrion and temozolomide (TMZ) resistance. IC50 of Ery was found at nM concentration and at 24 h induced a severe diminution of EMT markers, MMPs and invasiveness in GSC. Furthermore, the phosphorylation pattern of NLK after Ery exposition also was affected. In addition, when Ery was administered to GSC at subIC50, it was capable of reverting TMZ resistance at concentrations innocuous to non-tumor cancer cells. Moreover, Ery added daily induced the death of all GSC. Those findings indicated that the phytodrug Ery could be used as adjuvant therapy in GBM.

Neuropsychological intervention in attention and visuospatial skills in two patients with Williams syndrome with different types of genetic deletion.

Williams Syndrome (WS) is a neurodevelopmental disorder with a distinctive physical, cognitive, and behavioral profile caused by a microdeletion in the q11.23 region of chromosome 7. The neuropsychological profile of WS is characterized by intellectual disability, hypersociability, and deficits, especially in attention and visuospatial skills. Our objective was to assess the effectiveness of a neuropsychological intervention program in attention and visuospatial skills in two patients with WS (aged 7 and 13 years old) with different types of deletion (1.5 and 1.8 Mb). Cognitive, behavioral, and adaptive abilities were evaluated through various neuropsychological tests and scales; the neuropsychological intervention program was subsequently applied, and we assessed its effectiveness. Both patients initially presented significant deficits in attention and visuospatial skills. After the program, we found improvements in attention and visuospatial skills. In addition, both patients had significant clinical advances and changes in adaptive behaviors (social and self-care). These findings suggest that this intervention program could improve attention processes, visuospatial skills, and some aspects of adaptive behavior in patients with WS, regardless of deletion size. Although the sample was small, limiting the generalizability of the results, we believe this program could be a helpful resource for professionals working with individuals with WS.

Voices of the Costa Rican scientific diaspora: Policy lessons from a decade of experiences from our scientists abroad.

Scientific diasporas have been identified as valuable resources to strengthen science, technology, and innovation in their countries of origin. In this context, our paper seeks to contribute by addressing the following research questions: What are the main features of the Costa Rican scientific diaspora, and what policy lessons can be extracted from their experiences abroad? Toward this goal, we analyzed ten years of diaspora perspectives as collected by TicoTal, an online database and network of Costa Rican scientists studying and working abroad created by the National Academy of Sciences (ANC) in 2010. Our study reveals the main features of the Costa Rican scientific diaspora using 121 interviews published over a ten-year period: we identified the academic areas in which the diaspora has specialized, the countries where they were trained, their current location, the most frequent funding mechanisms and sources that enabled professional opportunities abroad, the level of engagement and collaboration they maintain with the Costa Rican STI ecosystem, along with the incentives they consider important to support and harness the potential of this community to advance STI goals in the country. Results from this analysis can inform national policies and investment strategies in R&D infrastructure and resources, by providing a roadmap to engage with scientific diasporas and benefit from their training and talent, as well as guide future scholarship and exchange programs.

La electrólisis percutánea intratisular: una revisión sistemática / Percutaneous intratissue electrolysis: a systematic review

La electrólisis percutánea intratisular es un procedimiento terapéutico tecnológico mínimamente invasivo para el tratamiento de lesiones en el sistema musculoesquelético mediante inflamación controlada y fagocitosis para recuperar el tejido afectado. Acerca de esta, se realizó un análisis de la producción científica publicada de 2014 a 2021. El estudio se realizó por medio de una revi-sión bibliográfica sistémica siguiendo la metodología PRISMA, que incluyó el uso de fuentes de información en las bases científicas: PubMed, SciencieDirect, EuropePMC, ResearchGate, Sage Journal, Thiem Connect y PHysiotherapy evidence database (PEdro). Previamente al procesa-miento de los datos, los documentos encontrados fueron sometidos diversos criterios de selec-ción. Los investigadores concluyeron que la electrólisis percutánea intratisular resulta un trata-miento efectivo para el tratamiento de tendinopatías crónicas, cuando se realiza combinado con un programa de ejercicios enfocado en la progresión de las cargas.

This work presents an analysis of the scientific production developed between 2014 and 2021 on percutaneous intratissue electrolysis. The objective is to analyze the bibliograpHy on the diffe-rent EPI interventions. The study was carried out through a systemic review following a methodological process according to PRISMA using various sources for the collection of information, such as: Pubmed, Scienciedirect, Europe PMC, Hindawi, Cochrane, Sage Journal, Thiem Connect, Pedro, Puerta Of the investigation. Selection and quality criteria were applied to these documents, with a subsequent analysis using qualitative techniques. In conclusion, intratissue percutaneous electrolysis turns out to be a favorable tool in the treatment of chronic tendinopathies as long as it is combined with an exercise program focused on load progression.

Efectos de la experiencia cultural en la percepción de excelencia e impacto económico de los asistentes al Festival Internacional Cervantino / Effects of cultural experience on the perception of excellence and economic impact of the attendees at the International Cervantino Festival

Resumen El Festival Internacional Cervantino (FIC) es el evento turístico cultural más importante de la ciudad de Guanajuato, que atrae cada año a miles de visitantes. El objetivo de esta investigación fue determinar los factores que forman la experiencia de los asistentes al FIC, así como su relación con la percepción de la excelencia y del impacto económico, mediante la adaptación de un modelo estructural teórico basado en el modelo escandinavo de "Skot-Hansen y Linko y Silvanto". Se empleó una metodología cuantitativa, sustentada en un modelo de ecuaciones estructurales, basado en una encuesta hecha de manera no aleatoria por conveniencia a 709 visitantes en 2017. Los resultados identificaron que los factores ilustración, empoderamiento y entretenimiento, provocaron en los asistentes del festival, una experiencia memorable que anima, profundiza y enaltece de forma significativa sus vidas, aspecto que no siempre se ha valorado en este tipo de actividades. Además, la experiencia influye en la excelencia apreciada, impactando en la percepción de la calidad y profesionalismo de la organización y el nivel artístico del FIC. Los asistentes de este festival también percibieron que la excelencia apreciada en los factores de ilustración, empoderamiento y entretenimiento, beneficia la imagen positiva de Guanajuato; al fortalecerla como destino turístico, lo que repercute económicamente. Se concluye que el FIC logra buenas prácticas y políticas culturales, lo que es arduo de alcanzar y puede ser un argumento a favor de su propuesta.

Abstract The International Cervantino Festival (FIC) is the most important tourist cultural event in the city of Guanajuato since it attracts thousands of visitors every year. The objective of this research was to determine the factors that constitute the experience of FIC's attendees' as well as its relationship towards the perception of excellence and economic impact. A structural equation theoretical model based on the Scandinavian "Skot-Hansen and Linko and Silvanto" model was adapted for that purpose. A quantitative methodology was used, supported by a structural equations model, based on a survey with a non-random convenience sample of 709 visitors in 2017. Results identified that factors such as illustration, empowerment and entertainment produced a memorable experience among FIC attendees that encourages, deepens and heightens their lives in a meaningful way, an aspect that had not always been valued in these kinds of activities. Additionally, the experience also has an impact on perceived excellence, which impacts the perception of FIC's quality, professionalism, organization and artistic level. FIC's attendees also perceived that the excellence within illustration, empowerment and entertainment benefit Guanajuato's positive image strengthening the city as a touristic destination that leads to positive economic repercussions. It is concluded that FIC achieves good practices and cultural policies, a fact that is difficult to achieve and that can be an argument in favor of its cultural proposal.

Tsukamurella inchonensis isolated from catheter of an Ecuadorian patient with hemodialysis.

We report a case of catheter-related bloodstream infection by Tsukamurella inchonensis, identified using 16S rRNA gene sequencing, in a patient with arterial hypertension for 20 years and chronic kidney disease in hemodialysis since 08/07/2019. To our knowledge, this is the first case of T. inchonensis in Ecuador.

Consenso de leucemia mieloide aguda en México / Mexican consensus in acute myeloid leukemia in Mexico

resumen está disponible en el texto completo

Abstract Acute myeloid leukemia (AML) comprises a heterogeneous group of hematopoietic cell neoplasms of myeloid lineage that arise from the clonal expansion of their precursors in the bone marrow, interfering with cell differentiation, leading to a syndrome of bone marrow failure. AML is a consequence of genetic and epigenetic changes (point mutations, gene rearrangements, deletions, amplifications, and arrangements in epigenetic changes that influence gene expression) in hematopoietic precursor cells, which create a clone of abnormal cells that are capable of proliferating but cannot differentiate into mature hematopoietic cells or undergo programmed cell death. The diagnosis requires more than 20% myeloid blasts in the bone marrow and certain cytogenic abnormalities. Treatment will depend on age, comorbidities, and cytogenetic risk among the most frequent.

Epidemiología del dolor raquídeo en una población de escolares de España / Epidemiology of spinal pain in a population of schoolchildren from Spain

Introducción. El dolor raquídeo es uno de los motivos principales de asistencia sanitaria; suele aparecer durante la etapa escolar, aumenta progresivamente con la edad y se relaciona con ciertos factores de riesgo. El objetivo de esta investigación es analizar la prevalencia de dolor raquídeo en escolares y examinar los factores asociados a su padecimiento. Población y métodos. Estudio transversal mediante un cuestionario realizado en escolares de 9 a 11 años. Se analizó la prevalencia del dolor, la actividad física, los autocuidados del raquis, el uso de la mochila y la utilización de dispositivos electrónicos. Resultados. Se analizaron 329 sujetos. La prevalencia de dolor raquídeo es del 34,3 %, sin diferencias entre sexos. Se considera de baja intensidad, con una media de dolor de 1,99 ± 2,54 sobre 10 según la escala Wong-Baker FACES®, y en más de la mitad de los casos, de corta duración, menos de 12 horas. El 22,2 % de los escolares refieren dolor cervical, mientras que el 14 % y 11,9 % refieren dolor dorsal y lumbar, respectivamente. Además, el 47,9 % refieren dolor en más de una región raquídea. El 73,3 % realiza actividad física fuera del horario escolar, y el 90,6 % de los estudiantes utiliza dispositivos electrónicos. Se observó relación entre la presencia de dolor y hábitos de higiene postural adecuados. Conclusiones. Los escolares refieren dolor raquídeo de baja intensidad y corta duración, con mayor frecuencia en la región cervical. La asociación con factores de riesgo revela que los que refieren dolor presentan mejores hábitos posturales.

Introduction. Spinal pain is one of the main reasons for seeking care; it usually appears during school age, increases with age, and is related to certain risk factors. The objective of this study is to analyze the prevalence of spinal pain among schoolchildren and examine associated factors. Population and methods. Cross-sectional study with a questionnaire administered to schoolchildren aged 9-11 years. The prevalence of pain, physical activity, spine self-care, backpack use, and electronic device use were analyzed. Results. A total of 329 subjects were analyzed. The prevalence of spinal pain is 34.3 %, with no differences observed between sexes. Pain severity is considered mild, with a mean severity of 1.99 ± 2.54 over 10 according to the Wong-Baker FACES® scale; in more than 50 % of cases, pain had a short duration (less than 12 hours). Cervical pain was referred by 22.2 % of schoolchildren, whereas dorsal and lumbar pain were reported by 14 % and 11.9 %, respectively. In addition, 47.9 % referred pain in more than one region of the spine. Also, 73.3 % of schoolchildren did physical activity outside school hours and 90.6 % used electronic devices. An association was observed between the presence of pain and adequate postural hygiene habits. Conclusions. Schoolchildren referred spinal pain that was mild and short in duration, often in the cervical region. The association with risk factors indicates that children who referred pain have better postural habits.

Epidemiology of spinal pain in a population of schoolchildren from Spain. / Epidemiología del dolor raquídeo en una población de escolares de España.

Introduction: Spinal pain is one of the main reasons for seeking care; it usually appears during school age, increases with age, and is related to certain risk factors. The objective of this study is to analyze the prevalence of spinal pain among schoolchildren and examine associated factors. Population and methods: Cross-sectional study with a questionnaire administered to schoolchildren aged 9-11 years. The prevalence of pain, physical activity, spine self-care, backpack use, and electronic device use were analyzed. Results: A total of 329 subjects were analyzed. The prevalence of spinal pain is 34.3%, with no differences observed between sexes. Pain severity is considered mild, with a mean severity of 1.99 ± 2.54 over 10 according to the Wong-Baker FACES® scale; in more than 50% of cases, pain had a short duration (less than 12 hours). Cervical pain was referred by 22.2% of schoolchildren, whereas dorsal and lumbar pain were reported by 14% and 11.9%, respectively. In addition, 47.9% referred pain in more than one region of the spine. Also, 73.3% of schoolchildren did physical activity outside school hours and 90.6% used electronic devices. An association was observed between the presence of pain and adequate postural hygiene habits. Conclusions: Schoolchildren referred spinal pain that was mild and short in duration, often in the cervical region. The association with risk factors indicates that children who referred pain have better postural habits.

Introducción. El dolor raquídeo es uno de los motivos principales de asistencia sanitaria; suele aparecer durante la etapa escolar, aumenta progresivamente con la edad y se relaciona con ciertos factores de riesgo. El objetivo de esta investigación es analizar la prevalencia de dolor raquídeo en escolares y examinar los factores asociados a su padecimiento. Población y métodos. Estudio transversal mediante un cuestionario realizado en escolares de 9 a 11 años. Se analizó la prevalencia del dolor, la actividad física, los autocuidados del raquis, el uso de la mochila y la utilización de dispositivos electrónicos. Resultados. Se analizaron 329 sujetos. La prevalencia de dolor raquídeo es del 34,3 %, sin diferencias entre sexos. Se considera de baja intensidad, con una media de dolor de 1,99 ± 2,54 sobre 10 según la escala Wong-Baker FACES®, y en más de la mitad de los casos, de corta duración, menos de 12 horas. El 22,2 % de los escolares refieren dolor cervical, mientras que el 14 % y 11,9 % refieren dolor dorsal y lumbar, respectivamente. Además, el 47,9 % refieren dolor en más de una región raquídea. El 73,3 % realiza actividad física fuera del horario escolar, y el 90,6 % de los estudiantes utiliza dispositivos electrónicos. Se observó relación entre la presencia de dolor y hábitos de higiene postural adecuados. Conclusiones. Los escolares refieren dolor raquídeo de baja intensidad y corta duración, con mayor frecuencia en la región cervical. La asociación con factores de riesgo revela que los que refieren dolor presentan mejores hábitos posturales.

Institutional Capacity for Science Diplomacy in Central America.

Science, technology, and innovation (STI) is increasingly gaining in importance on the foreign policy agenda of governments worldwide. However, the implementation of science diplomacy strategies requires STI institutional capacity and strong interfaces with policy and diplomacy. This research first maps the STI public institutions of the six member countries of the Central American Integration System (Guatemala, El Salvador, Honduras, Nicaragua, Costa Rica and Panama) and then draws their capacity to connect internationally in order to highlight their potential for science diplomacy. Variables such as the year of creation and mandates of scientific councils, secretariats, national academies, international cooperation departments and ministries are analyzed. The study reveals several public management challenges stemming from the institutional disparity and complexity of the region, already marked by significant asymmetries of human development between the various countries. Highlighting and understanding such challenges may be helpful for countries in the region in developing meaningful strategies around science diplomacy.

COVID-19 and gastrointestinal symptoms in Mexico, a systematic review: does location matter?

BACKGROUND: Covid-19 in Mexico is on the rise in different parts of the country. We aimed to study the symptoms and comorbidities that associate with this pandemic in 3 different regions of Mexico. METHODS: We analyzed data from SARS-CoV-2 positive patients evaluated at healthcare centers and hospitals of Mexico (n = 1607) including Northwest Mexico (Sinaloa state), Southeast Mexico (Veracruz state) and West Mexico (Jalisco state) between March 1 and July 30, 2020. Mexico consists of a total population that exceeds 128 million. Demographics, comorbidities and clinical symptoms were collected. Statistical descriptive analysis and correlation analyses of symptoms, comorbidities and mortality were performed. RESULTS: A total of 1607 hospitalized patients positive for COVID-19 across all 3 regions of Mexico were included. The average age was 54.6 years and 60.4% were male. A mortality rate of 33.1% was observed. The most common comorbidities were hypertension (43.2%), obesity (30.3%) and diabetes (31.4%). Hypertension was more frequent in West (45%), followed by Northwest (37%) and Southeast Mexico (29%). Obesity was around 30% in Northwest and West whereas an 18% was reported in Southeast. Diabetes was most common in West (34%) followed by Northwest (22%) and Southeast (13%). This might be related to the highest mortality rate in Northwest (31%) and West (37%) when compared to Southeast. Most common symptoms in our overall cohort were fever (80.8%), cough (79.8%), headache (66%), dyspnea (71.1%), myalgia (53.8%), joints pain (50.8%) and odynophagia (34.8%). Diarrhea was the main gastrointestinal (GI) symptom (21.3%), followed by abdominal pain (18%), and nausea/ vomiting (4.5%). Diarrhea and abdominal pain were more common in West (23.1 and 21%), followed by Southeast (17.8, and 9.8%) and Northwest (11.4 and 3.1%). CONCLUSION: Our study showed a high mortality rate likely related to high frequencies of comorbidities (hypertension, obesity and diabetes). Mortality was different across regions. These discrepancies might be related to the differences in the frequencies of comorbidities, and partially attributed to differences in socio-economic conditions and quality of care. Thus, our findings stress the need for improved strategies to get better outcomes in our population.

Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans / Diagnóstico clínico, radiológico y molecular de fibrodisplasia osificante progresiva

Abstract Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually secondary to trauma. The ossification foci generate pain, joint ankyloses, and restricted movement. Congenital shortening and medial deviation first metatarsal of the foot is a distinctive feature. This report aimed to present an educational value case of a patient with clinical, imaging, and molecular diagnosis of progressive fibrodysplasia ossificans, recognized as a rare condition that severely affects the quality of life. Case report: We present the case of a 6-year-old female patient with lumps in the right scapular and dorsal region, progressive joint rigidity, and short first metatarsal medially deviated since birth. By imaging studies, we established the diagnosis of progressive fibrodysplasia ossificans. Sanger sequencing of ACVR1 reported c.617G>A (p.Arg206His). Conclusions: Confirmation of the diagnosis allowed genetic counseling, including a comprehensive explanation of the disease’s natural history and measures to prevent its rapid progression.

Resumen Introducción: La fibrodisplasia osificante progresiva es una enfermedad genética poco frecuente, causada por variantes patogénicas en estado heterocigoto (herencia autosómica dominante) en el gen ACVR1, que provoca osificación heterotópica progresiva en músculos, tendones y ligamentos, comúnmente secundaria a traumatismos. Los focos de osificación generan dolor, anquilosis articular y restricción del movimiento. Es característico el acortamiento congénito y la desviación medial del primer metatarsiano del pie. El objetivo de este reporte es presentar un caso de alto valor educativo de una paciente con diagnóstico clínico, imagenológico y molecular de fibrodisplasia osificante progresiva, reconocida como una condición infrecuente y que afecta de manera grave la calidad de vida. Caso clínico: Paciente de sexo femenino con tumoraciones induradas en la región dorsal y escapular, detectadas a los 6 años de vida. Cursaba además con rigidez articular progresiva y primer metatarsiano del pie acortado y con desviación en sentido medial desde el nacimiento. Por estudios de imagen se estableció el diagnóstico de fibrodisplasia osificante progresiva. Por secuenciación Sanger se reportó c.617G>A (p.Arg206His) en ACVR1. Conclusiones: La confirmación del diagnóstico permitió ofrecer un asesoramiento genético integral, incluyendo una amplia explicación de la evolución natural del padecimiento y de las medidas preventivas para disminuir su rápida progresión.