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Glioblastoma (GBM) is the most common malignant central nervous system tumor. The emerging field of epigenetics stands out as particularly promising. Notably, the discovery of micro RNAs (miRNAs) has paved the way for advancements in diagnosing, treating, and prognosticating patients with brain tumors. We aim to provide an overview of the emergence of miRNAs in GBM and their potential role in the multifaceted management of this disease. We discuss the current state of the art regarding miRNAs and GBM. We performed a narrative review using the MEDLINE/PUBMED database to retrieve peer-reviewed articles related to the use of miRNA approaches for the treatment of GBMs. MiRNAs are intrinsic non-coding RNA molecules that regulate gene expression mainly through post-transcriptional mechanisms. The deregulation of some of these molecules is related to the pathogenesis of GBM. The inclusion of molecular characterization for the diagnosis of brain tumors and the advent of less-invasive diagnostic methods such as liquid biopsies, highlights the potential of these molecules as biomarkers for guiding the management of brain tumors such as GBM. Importantly, there is a need for more studies to better examine the application of these novel molecules. The constantly changing characterization and approach to the diagnosis and management of brain tumors broaden the possibilities for the molecular inclusion of novel epigenetic molecules, such as miRNAs, for a better understanding of this disease.

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New adjuvant strategies are needed to improve protein-based subunit vaccine immunogenicity. We examined the potential to use nanostructure of 6-O-ascorbyl palmitate to formulate ovalbumin (OVA) protein and an oligodeoxynucleotide (CpG-ODN) (OCC). In mice immunized with a single dose, OCC elicited an OVA-specific immune response superior to OVA/CpG-ODN solution (OC). Rheological studies demonstrated OCC's self-assembling viscoelastic properties. Biodistribution studies indicated that OCC prolonged OVA and CpG-ODN retention at injection site and lymph nodes, reducing systemic spread. Flow-cytometry assays demonstrated that OCC promoted OVA and CpG-ODN co-uptake by Ly6ChiCD11bhiCD11c+ monocytes. OCC and OC induced early IFN-γ in lymph nodes, but OCC led to higher concentration. Conversely, mice immunized with OC showed higher serum IFN-γ concentration compared to those immunized with OCC. In mice immunized with OCC, NK1.1+ cells were the IFN-γ major producers, and IFN-γ was essential for OVA-specific IgG2c switching. These findings illustrate how this nanostructure improves vaccine's response.

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Wearable Biosensor Technology (WBT) has emerged as a transformative tool in the educational system over the past decade. This systematic review encompasses a comprehensive analysis of WBT utilization in educational settings over a 10-year span (2012-2022), highlighting the evolution of this field to address challenges in education by integrating technology to solve specific educational challenges, such as enhancing student engagement, monitoring stress and cognitive load, improving learning experiences, and providing real-time feedback for both students and educators. By exploring these aspects, this review sheds light on the potential implications of WBT on the future of learning. A rigorous and systematic search of major academic databases, including Google Scholar and Scopus, was conducted in accordance with the PRISMA guidelines. Relevant studies were selected based on predefined inclusion and exclusion criteria. The articles selected were assessed for methodological quality and bias using established tools. The process of data extraction and synthesis followed a structured framework. Key findings include the shift from theoretical exploration to practical implementation, with EEG being the predominant measurement, aiming to explore mental states, physiological constructs, and teaching effectiveness. Wearable biosensors are significantly impacting the educational field, serving as an important resource for educators and a tool for students. Their application has the potential to transform and optimize academic practices through sensors that capture biometric data, enabling the implementation of metrics and models to understand the development and performance of students and professors in an academic environment, as well as to gain insights into the learning process.

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The FMR1 5' regulation gene region harbors a CGG trinucleotide repeat expansion (CGG-TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions. Ricaurte is a small village in southwestern Colombia, with an FXS prevalence of 1 in 38 men and 1 in 100 women (~100 times higher than the worldwide reported prevalence), defining Ricaurte as the largest FXS cluster in the world. In the present study, using next-generation sequencing of whole exome capture, we genotype 55 individuals from Ricaurte (49 with either full mutation or with premutation), four individuals from neighboring villages (with either the full mutation or with the premutation), and one unaffected woman, native of Ricaurte, who did not belong to any of the affected families. With advanced clustering and haplotype reconstruction, we modeled a common haplotype of 33 SNPs spanning 83,567,899 bp and harboring the FMR1 gene. This reconstructed haplotype was found in all the men from Ricaurte who carried the expansion, demonstrating that the genetic conglomerate of FXS in this population is due to a founder effect. The definition of this founder effect and its population outlining will allow a better prediction, follow-up, precise and personalized characterization of epidemiological parameters, better knowledge of the disease's natural history, and confident improvement of the clinical attention, life quality, and health interventions for this community.

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Objetivo: presentar los avances diagnósticos, moleculares y radiológicos, así como en las estrategias terapéuticas para gliomas difusos en los últimos 5 años (2018-2023) en la Fundación Universitaria de Ciencias de la Salud (FUCS), Bogotá D.C., Colombia. Materiales y métodos: se describen las técnicas diagnósticas y terapéuticas utilizadas para gliomas difusos con casos ilustrativos. Resultados: se muestran los avances de las herramientas diagnósticas y terapéuticas para el manejo de gliomas difusos. Discusión: en los últimos 5 años se ha avanzado en la clasificación, diagnóstico y tratamiento de los gliomas difusos, gracias a los avances tecnológicos como los marcadores moleculares, la tractografía y la fusión de imágenes para la neuronavegación y las técnicas de estimulación cortical. Esto ha permitido que el tratamiento de los pacientes con dichos tumores mejore la tasa de morbilidad, la calidad de vida libre de enfermedad y la supervivencia global. Conclusiones: las técnicas de diagnóstico como la tractografía, la fusión integral de imágenes intraoperatorias y el mapeo cerebral electrofisiológico con estimulación cortical y subcortical han mejorado el diagnóstico y tratamiento de los gliomas difusos.

Objective: to present the diagnostic, molecular, radiological, and therapeutic advances, to address diffuse gliomas, made at Fundación Universitaria de Ciencias de la Salud (FUCS), Bogotá D.C., Colombia, in the last 5 years (2018-2023). Materials and methods: diagnostic and therapeutic techniques to address diffuse gliomas are described through illustrative cases. Results: the advances in diagnostic and therapeutic tools for managing diffuse gliomas, are shown. Discussion: in the last 5 years progress in characterizing, diagnosing, and treating diffuse gliomas, thanks to technological breakthroughs, such as molecular markers, tractography, image fusion for neuronavigation, and cortical stimulation techniques, has been achieved. This has allowed improving morbidity rate, disease-free quality of life and overall survival through the treatment provided to patients afflicted with gliomas. Conclusions: Diagnostic techniques based on tractography, comprehensive intraoperative image fusion, and electrophysiological brain mapping with cortical and subcortical stimulation, have improved the diagnostic and therapeutic approaches for diffuse gliomas.

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Background: COVID-19 infections have been described as asymptomatic or mild, with a low incidence of severe cases in children and adolescents who followed the basic hygiene measures. The objective of this study was to describe the clinical and epidemiological characteristics of our pediatric population during four waves of the COVID-19 pandemic from a private hospital. Methods: A retrospective observational study in patients under 15 years old with confirmed SARS-CoV-2 infection by real-time reverse transcription-polymerase chain reaction (RT-PCR) test from April 1, 2020 to April 30, 2022. Demographic, clinical, and therapy variables were examined, and the Chi-square test was used for comparisons. Results: From 5,870 RT-PCR taken through the first two years of the pandemic, 1,371 tested positive, obtaining a positivity rate of 23.37%. Patients' median (IQR) age was 9.0 (7.0) years, and most were male (n = 705, 51.4%). The primary comorbidities were rhinitis (n = 239, 17.4%) and asthma (n = 172, 12.5%). Most cases were scholars (n = 568, 41.4%) during the fourth COVID-19 wave (n = 831, 60.6%). Almost all cases (88.2%) reported prior exposure to SARS-CoV-2-infected households. Six percent (n = 82) of the patients reported being vaccinated against SARS-CoV-2. Most participants (89.3%) received outpatient care, and 0.6% required hospitalization. Nine (0.6%) patients were diagnosed with Multisystemic Inflammatory Syndrome in Children (MIS-C). The second COVID-19 wave reported a higher frequency of anosmia and dysgeusia; the third wave reported fever and malaise, and the fourth wave reported cough, odynophagia, and vomiting (p < 0.05). The second wave reported no treatment (n = 23, 15.3%), while the third and fourth waves reported outpatient care and hospitalization (n = 367, 95.1%; and n = 4, 1.0%, respectively) (p = <0.001). Reinfection cases were frequent during the second wave (n = 8, 5.3%) (p=<0.001). Rhinorrhea, vomiting, and diarrhea were reported mainly by infants; fever by preschoolers; abdominal pain by scholars; and headache, odynophagia, anosmia, dysgeusia, myalgia, arthralgia, and malaise by adolescents (p < 0.05). Neither treatment nor reinfection showed age-related differences (p = 0.496 and p = 0.224, respectively). Conclusion: The study demonstrated a lower positive rate for SARS-CoV-2 in our hospital'The majority of cases in our study were outpatients who reported a mild infection with a favorable evolution based on symptomatic treatment.

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Background: Gliomas represent almost 30% of all primary brain tumors and account for 80% of malignant primary ones. In the last two decades, significant progress has been made in understanding gliomas' molecular origin and development. These advancements have demonstrated a remarkable improvement in classification systems based on mutational markers, which contribute paramount information in addition to traditional histology-based classification. Methods: We performed a narrative review of the literature including each molecular marker described for adult diffuse gliomas used in the World Health Organization (WHO) central nervous system 5. Results: The 2021 WHO classification of diffuse gliomas encompasses many molecular aspects considered in the latest proposed hallmarks of cancer. The outcome of patients with diffuse gliomas relies on their molecular behavior and consequently, to determine clinical outcomes for these patients, molecular profiling should be mandatory. At least, the following molecular markers are necessary for the current most accurate classification of these tumors: (1) isocitrate dehydrogenase (IDH) IDH-1 mutation, (2) 1p/19q codeletion, (3) cyclin-dependent kinase inhibitor 2A/B deletion, (4) telomerase reverse transcriptase promoter mutation, (5) α-thalassemia/ mental retardation syndrome X-linked loss, (6) epidermal growth factor receptor amplification, and (7) tumor protein P53 mutation. These molecular markers have allowed the differentiation of multiple variations of the same disease, including the differentiation of distinct molecular Grade 4 gliomas. This could imply different clinical outcomes and possibly impact targeted therapies in the years to come. Conclusion: Physicians face different challenging scenarios according to the clinical features of patients with gliomas. In addition to the current advances in clinical decision-making, including radiological and surgical techniques, understanding the disease's molecular pathogenesis is paramount to improving the benefits of its clinical treatments. This review aims to describe straightforwardly the most remarkable aspects of the molecular pathogenesis of diffuse gliomas.

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BACKGROUND: Costa Rica has a history of neglecting prevention, control and research of leishmaniasis, including limited understanding on Leishmania species causing human disease across the country and a complete lack of knowledge on the Leishmania RNA virus, described as a factor linked to the worsening and metastasis of leishmanial lesions. OBJECTIVES: The aim of this work was to describe a case of cutaneous leishmaniasis by Leishmania (Viannia) guyanensis, bearing infection with Leishmaniavirus 1 (LRV1) in Costa Rica, raising the suspicion of imported parasites in the region. METHODS: The Leishmania strain was previously identified by routine hsp70 polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in Costa Rica and subsequently characterised by isoenzyme electrophoresis and Sanger sequencing in Brazil. Screening for LRV1 was conducted with a dual RT-PCR approach and sequencing of the fragment obtained. FINDINGS: Since 2016 Costa Rica performs Leishmania isolation and typing as part of its epidemiological surveillance activities. Amongst 113 strains typed until 2019, only one was characterised as a L. (V.) guyanensis, corresponding to the first confirmed report of this species in the country. Interestingly, the same strain tested positive for LRV1. Sequencing of the viral orf1 and 2, clustered this sample with other LRV1 genotypes of South American origin, from the Northeast of Brazil and French Guiana. MAIN CONCLUSION: The unique characteristics of this finding raised the suspicion that it was not an autochthonous strain. Notwithstanding its presumed origin, this report points to the occurrence of said endosymbiont in Central American Leishmania strains. The possibility of its local dispersion represents one more challenge faced by regional health authorities in preventing and controlling leishmaniasis.

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Myiasis refers to infestation of living animals or humans by maggots or fly larvae. Urogenital myiasis is a rare condition that is linked to poor sanitary conditions and limited access to healthcare and with few published case reports. Here, we describe the case of a 67-year-old homeless woman with multiple comorbidities, who presented with extensive vaginal myiasis requiring inpatient management with ivermectin, ceftriaxone, and metronidazole and daily larvae extraction and debridement. The relevance of this case is providing a report of a successful management with ivermectin of a case of severe vaginal myiasis. Severe cases of vaginal myiasis can require repeated debridement of necrotic tissue and systemic antibiotics in addition to antiparasitic medication. People living under poor sanitary conditions and with poor hygienic practices are at increased risk for severe vaginal myiasis.

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A new precursor (Ag+/CS/PNIPA) arranged as a nanogel (nanoreactor) is obtained from the aqueous mixture of Ag+, chitosan (CS) and poly(N-isopropylacrylamide) (PNIPA). A model synthetic system based on the thermally induced aqueous silver ions-CS reaction to form silver nanoparticles (AgNP) is used as a starting point to assess the PNIPA role as a thermo-sensitive additive of synthesis in a low content for the production of size-controlled AgNP. As expected, the PNIPA phase transition produced by the temperature increase leads to chitosan nanogel contraction, lowering the diffusion of ionic species. PNIPA behaves as a successful additive between 5.6 and 10.5 wt% of content blended with chitosan, noticeably improving AgNP nucleation during thermal treatment at 90 °C. Higher PNIPA contents are less effective in achieving size control and broader size distributions are generated. The PNIPA effect on the nanoreactor structure is characterized by rheology, modelled and analyzed against the AgNP morphology obtained.

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Endometrial cancer (EC) is the second most common gynecological malignancy worldwide, the first in developed countries [Sung et al. in CA Cancer J Clin 71:209-249, 2021]. Although a majority is diagnosed at an early stage with a low risk of relapse, an important proportion of patients will relapse. Better knowledge of molecular abnormalities is crucial to identify high-risk groups in early stages as well as for recurrent or metastatic disease for whom adjuvant treatment must be personalized. The objective of this guide is to summarize the current evidence for the diagnosis, treatment, and follow-up of EC, and to provide evidence-based recommendations for clinical practice.

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PURPOSE: Patients with diabetes mellitus (DM) often have keratopathy. However, the compromise of the corneal endothelium in type 1 DM (T1DM) and type 2 DM (T2DM) has so far not been well characterized. METHODS: We performed a systematic literature search to find articles on humans combining T1DM and/or T2DM and the corneal endothelium. The period was from inception to June 2020. The meta-regression evaluated the role of each type of DM on corneal endothelial cell density (CED) and pachymetry. The statistical models included age as a modulator to discriminate between the normal changes due to age and the effect of the disease and to determine the impact of the disease duration. RESULTS: The initial search identified 752 records, of which 17 were included in the meta-regression. Patients with T1DM had, on average, 193 cells/mm 2 lesser than control patients ( P < 0.00001). Patients with T2DM had 151 cells/mm 2 less compared with control patients ( P < 0.00001). The loss of corneal endothelial cells was expected because the aging was similar in patients with T1DM and T2DM and their control groups. Patients with T1DM and T2DM showed an increase in pachymetry versus control patients, and in both groups, it was associated with the duration of the disease. CONCLUSIONS: Both types of DM reduced CED and increased pachymetry. These differences were higher in patients with T1DM versus control patients than patients with T2DM versus control patients. In T1DM, CED reduction was not correlated with the time from diagnosis. In both groups, patients had CED reduction due to aging similar to that of their matched control patients.

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The present instrumental study evaluated the psychometric properties of the Coronavirus Anxiety Scale with 421 Colombian adults in full lockdown of coronavirus. The reliability was excellent, obtained through the Cronbach's Alpha coefficient (α = 0.83). The results of the confirmatory factor analysis identified satisfactory indicators for the scale's one-dimensional model. The correlations obtained in the discriminant analysis of the items have a moderate level of correlation with values between 0.74 and 0.81. These findings demonstrate that the Coronavirus Anxiety Scale is a valid and reliable instrument to evaluate dysfunctional anxiety related to coronavirus in Colombian population.

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BACKGROUND Costa Rica has a history of neglecting prevention, control and research of leishmaniasis, including limited understanding on Leishmania species causing human disease across the country and a complete lack of knowledge on the Leishmania RNA virus, described as a factor linked to the worsening and metastasis of leishmanial lesions. OBJECTIVES The aim of this work was to describe a case of cutaneous leishmaniasis by Leishmania (Viannia) guyanensis, bearing infection with Leishmaniavirus 1 (LRV1) in Costa Rica, raising the suspicion of imported parasites in the region. METHODS The Leishmania strain was previously identified by routine hsp70 polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in Costa Rica and subsequently characterised by isoenzyme electrophoresis and Sanger sequencing in Brazil. Screening for LRV1 was conducted with a dual RT-PCR approach and sequencing of the fragment obtained. FINDINGS Since 2016 Costa Rica performs Leishmania isolation and typing as part of its epidemiological surveillance activities. Amongst 113 strains typed until 2019, only one was characterised as a L. (V.) guyanensis, corresponding to the first confirmed report of this species in the country. Interestingly, the same strain tested positive for LRV1. Sequencing of the viral orf1 and 2, clustered this sample with other LRV1 genotypes of South American origin, from the Northeast of Brazil and French Guiana. MAIN CONCLUSION The unique characteristics of this finding raised the suspicion that it was not an autochthonous strain. Notwithstanding its presumed origin, this report points to the occurrence of said endosymbiont in Central American Leishmania strains. The possibility of its local dispersion represents one more challenge faced by regional health authorities in preventing and controlling leishmaniasis.

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Objective: To evidence the need for screening fragile X syndrome (FXS) in egg donors in assisted reproduction protocols. Case report : This is the report of a boy with FXS who inherited the mutated allele from an ovule donated by the mother´s sister through an assisted reproduction protocol. Identifying premutation (PM) carriers of FXS amongst gamete donors isn't part of the obligatory genetic analysis for donors and is only considered by most of the in vitro fertility societies and guidelines as part of the extension screening tests. Conclusion: It is cost-effective to do pre-conceptional screening for the PM or full mutation (FM) of the FMR1 gene affected in FXS in every woman undergoing assisted reproductive methods, including gamete donors even without a positive family history of intellectual disabilities. This case supports the need of rethinking the guidelines on the necessary gamete donor screening tests in assisted reproduction protocols.

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AIM: This study aims to investigate similarities and differences using lncRNA and mRNA coexpression network analysis in African ancestry (AA) and European ancestry (EA) among prostate cancer (PCa) patients. METHODS: We performed weighted gene coexpression network analysis of the expression from 49 of AA and 49 of EA to identify lncRNAs-mRNAs. RESULTS: 27 lncRNAs and 36 mRNAs were highly expressed in patients of AA. Two mRNAs and their antisense lncRNAs were expressed. Additionally, seven mRNAs were DE or coexpressed and had an impact on survival. CONCLUSION: We present a list of lncRNAs and mRNAs that were DE and coexpressed when comparing patients of AA and EA, and these data are a resource for future studies to understand the role of lncRNAs.

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RESUMEN Antecedentes y objetivo: La insuficiencia renal es una de las complicaciones extrapulmonares más frecuente en pacientes hospitalizados con COVID-19 condicionando peores desenlaces. Sin embargo, estudios comparan pacientes con insuficiencia renal aguda (IRA) o crónica (ERC) con pacientes sanos. Determinar características clínicas de pacientes con COVID-19 e insuficiencia renal hospitalizados y evaluar el efecto del tipo de insuficiencia renal y el recibir hemodiálisis en los desenlaces clínicos negativos. Métodos: Cohorte descriptiva que incluyó pacientes con algún tipo de insuficiencia renal y COVID-19 hospitalizados durante marzo y julio del 2020, que tuvieron una interconsulta con nefrología. La insuficiencia renal se clasificó como aguda, crónica, y crónica en estadio V con hemodiálisis crónica. Se recolectó información sobre mortalidad, uso de inotrópicos, ventilación mecánica y recibir hemodiálisis aguda. Resultados: Se analizó a 279 pacientes, 22.6 % tenían IRA, 33.3 % tenían ERC, y 44.1 % tenían ERC V. Se describe una mortalidad general de 32.9 %. Entre los pacientes con IRA y ERC el 12.9 % recibió hemodiálisis por primera vez. El desarrollo de IRA se asoció a ventilación mecánica (RPa: 6.46), uso de inotrópicos (RPa: 7.02) y fallecer (RPa: 2.41), en comparación con los que tenían sólo ERC. Entre quienes tenían IRA o ERC, aquellos que recibieron hemodiálisis por primera vez tienen mayor prevalencia de fallecer (RPa: 2.95; IC95%:2.20 a 3.94) en comparación con los que no recibieron hemodiálisis. La hemodiálisis aguda podría ser un modificador de efecto de la asociación entre tipo de insuficiencia renal (IRA o ERC) y desenlaces clínicos negativos (p<0.001). Conclusión: Es importante identificar a pacientes hospitalizados por COVID-19 que desarrollan IRA y/o necesitan hemodiálisis aguda pues se encuentran en alto riesgo de tener una mala evolución clínica.

ABSTRACT Introduction: Kidney failure is one of the most frequent extrapulmonary complications in patients hospitalized with COVID-19, leading to poorer outcomes, and this may have serious consequences for the Peruvian health system. Nonetheless, there are studies comparing patients with acute kidney failure (AKF) and chronic kidney failure (CKF) against healthy subjects. Objective: To determine the clinical characteristics of hospitalized patients with COVID-19 and kidney failure, and to assess the effect of the type of kidney failure and undergo hemodialysis with respect to negative clinical outcomes. Methods: This is a descriptive cohort study that included patients with some kind of kidney failure and COVID-19 who were hospitalized between March and June 2020, and who had a consultation with the nephrology service. Kidney failure was classified as acute, chronic, and stage V chronic undergoing chronic hemodialysis. Data with respect to mortality, inotrope use, mechanical ventilation, and acute hemodialysis was collected. Results: Two-hundred and seventy-nine patients were included, 22.6% had acute kidney failure, 33.3% had chronic kidney failure, and 44.1 had stage V chronic kidney failure. General mortality rate was 32.0%, and 27% received inotrope agents and underwent mechanical ventilation. Amongst patients with AKF and CKF, 12.9% underwent hemodialysis for the first time. Studied adult subjects with CKD and stage V CKD undergoing hemodialysis had lower frequency of diabetes mellitus (23.7% and 43.9%, respectively) and high blood pressure (31.2% and 59.4%, respectively) compared with adult subjects with AKF (81.0 and 73%, respectively) (p<0.001). The occurrence of AKF was associated with mechanical ventilation (RPa: 6.46), inotrope use (RPa: 7.02), and death (RPa: 2.41), compared with those who had CKF. Amongst those subjects who had AKF or CKF, those who underwent dialysis for the first time were more likely to die (RPa: 2.95; 95% CI: 2.20-3.94) compared with those who did not undergo hemodialysis. Acute hemodialysis may be an effect modifier for the association between the type of kidney failure (AKF or CKF) and negative clinical outcomes (p<0.001). Conclusion: It is important to identify hospitalized patients with COVID-19 that may develop AKF and/or who may need acute hemodialysis, since they are at high risk for a poor clinical outcome.

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Background and Objective Prostate cancer is a multifactorial disease and is among the top five causes of death in men worldwide. The Colombian Ministry of Health has adopted the Integrated Information System on Social Protection (Sistema Integrado de Información de la Protección Social, SISPRO, by its Spanish acronym) registry to collect comprehensive information from the Colombian health system. The system provides close to universal coverage (around 95%). We aimed to establish the prevalence of prostate cancer in Colombia and to describe its demographics, based on data provided by SISPRO, openly available for scientific analysis. Methods Using the SISPRO data from 2015 through 2019, we analyzed the prevalence and demographic characteristics of patients diagnosed with prostate cancer. Results We identified a total of 43,862 patients with prostate cancer in the 5-year period and estimated a prevalence of 4.54 cases per 1,000 habitants, using as denominator males over 35 years old. We calculated a prevalence of early-onset prostate cancer (i.e., 35­54 years) of 0.14 per 1,000 habitants (791 cases in 5 years). The highest prevalence was observed in patients>80 years (33.45 per 1,000 habitants). The departments with the highest prevalence were Bogotá, Valle del Cauca, Risaralda, and Boyacá, and the region with the lowest prevalence was Amazonas.

Antecedentes y Objetivo El cáncer de próstata es una enfermedad multifactorial, y se encuentra entre las cinco principales causas de muerte en hombres a nivel mundial. El Ministerio de Salud de Colombia ha adoptado el Sistema Integrado de Información de la Protección Social (SISPRO) para la recopilación de la información integral del sistema de salud colombiano. El sistema proporciona una cobertura casi universal (alrededor del 95%). El objetivo de este estudio fue establecer la prevalencia del cáncer de próstata en Colombia y describir su demografía, con base en los datos proporcionados por el SISPRO, disponibles de forma abierta para el análisis científico. Métodos Utilizando los datos del SISPRO de 2015 a 2019, se analizaron la prevalencia y las características demográficas de los pacientes diagnosticados con cáncer de próstata. Resultados Se identificó un total de 43,862 pacientes con cáncer de próstata en el período de 5 años, con una prevalencia de 4,54 casos por cada mil habitantes, utilizando como denominador hombres mayores de 35 años. La prevalencia de cáncer de próstata de inicio temprano (es decir, paciente de 35 a 54 años) fue de 0.14 por mil habitantes (791 casos en 5 años). La mayor prevalencia se observó en pacientes > 80 años (33,45 por mil habitantes). Los departamentos con mayor prevalencia fueron Bogotá, Valle del Cauca, Risaralda, y Boyacá. Y la región con menor prevalencia fue Amazonas. Conclusión Describimos la prevalencia y la demografía del cáncer de próstata y el cáncer de próstata de inicio temprano en Colombia utilizando la base de datos del sistema nacional de salud. Observamos una distribución desigual de la prevalencia entre las regiones, que puede estar relacionada con factores raciales, ambientales, o de acceso, que justifican más estudios.

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Fragile X syndrome (FXS), is an X-linked inherited genetic disease. FXS is the leading cause of inherited intellectual disability and autism in the world. Those affected are characterized by intellectual disability, language deficit, typical facies, and macroorchidism. Alterations in the FMR1 gene have been associated with FXS. The majority of people with this condition have an allele with an expansion of more than 200 repeats in a tract of CGGs within the 5' untranslated region, and this expansion is associated with a hypermethylated state of the gene promoter. FXS has incomplete penetrance and variable expressivity. Intellectual disability is present in 100% of males and 60% of females. Autism spectrum disorder symptoms appear in 50% to 60% of males and 20% of females. Other characteristics such as behavioral and physical alterations have significant variations in presentation frequency. The molecular causes of the variable phenotype in FXS patients are becoming clear: these causes are related to the FMR1 gene itself and to secondary, modifying gene effects. In FXS patients, size and methylation mosaicisms are common. Secondary to mosaicism, there is a variation in the quantity of FMR1 mRNA and the protein coded by the gene Fragile Mental Retardation Protein (FMRP). Potential modifier genes have also been proposed, with conflicting results. Characterizing patients according to CGG expansion, methylation status, concentration of mRNA and FMRP, and genotypification for possible modifier genes in a clinical setting offers an opportunity to identify predictors for treatment response evaluation. When intervention strategies become available to modulate the course of the disease they could be crucial for selecting patients and identifying the best therapeutic intervention. The purpose of this review is to present the information available about the molecular causes of the variability of the expression incomplete penetrance and variable expressivity in FXS and their potential clinical applications.