Analysis of single nucleotide polymorphisms of the metabotropic glutamate receptors in a transgender population.

Introduction: Gender incongruence (GI) is characterized by a marked incongruence between an individual's experienced/expressed gender and the assigned sex at birth. It includes strong displeasure about his or her sexual anatomy and secondary sex characteristics. In some people, this condition produces a strong distress with anxiety and depression named gender dysphoria (GD). This condition appears to be associated with genetic, epigenetics, hormonal as well as social factors. Given that L-glutamate is the major excitatory neurotransmitter in the central nervous system, also associated with male sexual behavior as well as depression, we aimed to determine whether metabotropic glutamate receptors are involved in GD. Methods: We analyzed 74 single nucleotide polymorphisms located at the metabotropic glutamate receptors (mGluR1, mGluR3, mGluR4, mGluR5, mGluR7 and mGluR8) in 94 transgender versus 94 cisgender people. The allele and genotype frequencies were analyzed by c2 test contrasting male and female cisgender and transgender populations. The strength of the associations was measured by binary logistic regression, estimating the odds ratio (OR) for each genotype. Measurement of linkage disequilibrium, and subsequent measurement of haplotype frequencies were also performed considering three levels of significance: P ≤ 0.05, P ≤ 0.005 and P ≤ 0.0005. Furthermore, false positives were controlled with the Bonferroni correction (P ≤ 0.05/74 = 0.00067). Results: After analysis of allele and genotypic frequencies, we found twenty-five polymorphisms with significant differences at level P ≤ 0.05, five at P ≤ 0.005 and two at P ≤ 0.0005. Furthermore, the only two polymorphisms (rs9838094 and rs1818033) that passed the Bonferroni correction were both related to the metabotropic glutamate receptor 7 (mGluR7) and showed significant differences for multiple patterns of inheritance. Moreover, the haplotype T/G [OR=0.34 (0.19-0.62); P<0.0004] had a lower representation in the transgender population than in the cisgender population, with no evidence of sex cross-interaction. Conclusion: We provide genetic evidence that the mGluR7, and therefore glutamatergic neurotransmission, may be involved in GI and GD.

Proteína C reactiva como biomarcador predictivo de fuga anastomótica en cirugía oncológica colorrectal: estudio de cohorte retrospectivo / C-reactive protein as a predictive biomarker of anastomotic leak in colorectal cancer surgery: A retrospective cohort study

Introducción. La fuga anastomótica es la complicación más grave del tratamiento quirúrgico del cáncer de colon por su alta morbimortalidad. El diagnóstico evidente, manifestado por la salida de contenido intestinal por drenajes o la herida quirúrgica, ocurre tardíamente (entre el 6º y 8º día). El objetivo de este trabajo fue estudiar la variación de los valores de la proteína C reactiva postoperatoria para hacer un diagnóstico precoz. Métodos. Estudio observacional, analítico, retrospectivo, de una cohorte de pacientes con neoplasia, en quienes se realizó cirugía oncológica con anastomosis intestinal, entre enero de 2019 y diciembre de 2021. Se midieron los valores en sangre de proteína C reactiva postoperatoria (1°, 3° y 5° días). Resultados. Se compararon 225 casos operados que no presentaron fuga con 45 casos con fuga. En los casos sin fuga, el valor de proteína C reactiva al 3º día fue de 148 mg/l y al 5º día de 71 mg/l, mientras en los casos con fuga, los valores fueron de 228,24 mg/l y 228,04 mg/l, respectivamente (p<0,05). Para un valor de 197 mg/l al 3º día la sensibilidad fue de 77 % y para un valor de 120 mg/l al 5º día la sensibilidad fue de 84 %. Conclusión. El mejor resultado de proteína C reactiva postoperatoria para detectar precozmente la fuga anastomótica se observó al 5º día. El valor de 127 mg/l tuvo la mejor sensibilidad, especificidad y valor predictivo negativo, lo cual permitiría el diagnóstico temprano y manejo oportuno de esta complicación

Introduction. Anastomotic leak is the most serious complication of surgical treatment of colon cancer due to its high morbidity and mortality. The obvious diagnosis manifested by the exit of intestinal content through drains or the operative wound, occurs late (between the 6th and 8th day). The objective of this work was to study the postoperative C-reactive protein values to make an early diagnosis. Methods. Observational, analytical, retrospective study of a cohort of patients undergoing colorectal surgery for neoplasia, between January 2019 and December 2021, who underwent oncological surgery with intestinal anastomosis and measured CRP blood values on 1st, 3rd and 5th post-operative days. Results. Two-hundred-twenty-five operated cases that did not present leaks were compared with 45 cases with leaks, with CRP values on the 3rd and 5th day of 148mg/l and 71mg/l in cases without leakage and CRP values of 228.24mg/l and 228.04 mg/l in cases with leakage on the 3rd and 5th day, respectively (p<0.05), CRP value of 197mg/l on the 3rd day has a sensitivity of 77%; CRP value of 120mg/l on the 5th day, has a sensitivity of 84%. Conclusions. The best result for CPR to early diagnosis of anastomotic leak was observed on the 5th day, having the value of 127 mg/l the best sensitivity, specificity and NPV, which would allow early diagnosis and timely management

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) in Chile: lessons learned from challenging cases.

BACKGROUND: Anti-Myelin Oligodendrocyte Glycoprotein (MOG) Antibody Associated Disease (MOGAD) is an emerging disorder recognized as a clinical entity distinct from Multiple Sclerosis and Aquaporin-4-positive Neuromyelitis Optica Spectrum Disorders (NMOSD-AQP4+), and its phenotypic spectrum continues to expand. Most information about its clinical course has emerged from retrospective studies, and treatment response both in acute and chronic-relapsing disease is still limited. We aimed to describe the clinical and paraclinical characteristics of monophasic and relapsing, paediatric and adult patients with MOGAD under regular clinical care in Chile, highlighting some challenging cases that are far from being considered benign. METHODS: Observational, retrospective, and prospective longitudinal multicentre study including patients with positive serum MOG-IgG assessed by cell-based assay. RESULTS: We include 35 patients, 71% women, median age at onset 30 years (range 1-68), 23% had paediatric onset, with a median disease-duration 24 months (range 12-348). In the whole cohort, the most frequent symptoms at onset were isolated optic neuritis (ON) (34%) and myelitis (22%). Encephalitis with seizures or encephalomyelitis was the most common presentation in paediatric-onset patients 75% (n = 6), compared to 11% (n = 3) of the adult-onset patients (p < 0.001). A relapsing course was observed in 34%, these patients were younger (25 vs. 34 years, p = 0.004) and with a longer disease duration (64 vs. 6 months, p = 0.004) compared to monophasic patients. Two patients developed encephalitis with seizures/status epilepticus, with concomitant positive CSF anti-NMDAR-IgG. Chronic immunotherapy was ever prescribed in 77%, the most frequent was rituximab (35%). Relapses under chronic immunotherapy occurred in 5/27 patients (18.5%), two of them under rituximab, one paediatric patient who started combined therapy with monthly IVIG and one adult patient that switched to satralizumab plus mycophenolate. The median EDSS at the last follow-up was 1.5 (range 0-6.0). CONCLUSION: In Chile, patients with MOGAD exhibit a wide spectrum of clinical presentations at disease onset and during relapses. Close monitoring is needed, particularly in younger patients with short follow-up periods.

Trust in the physician: based-on-evidence advice to favor it / Confianza en el médico: recomendaciones para favorecerlo basadas en la evidencia

Introduction: Trust in physicians is associated with the observance of treatment, keeping the treating physician, willingness to recommend the physician, fewer disputes, perception of greater effectiveness of care, and improvement in health self-perception.Methods.The present narrative review explores factors that scientific literature relates to trust in physicians and organize them into those associated with patients' characteristics and those associated to physician's ones. The first group includes the patient's sociodemographic antecedents, health condition, selection of the physician, experience in the system, satisfaction, and symmetry of perspectives. The second group includes physician's sociodemographic characteristics, online information, physical appearance, communication, emotional intelligence, and humility.Results.From this revision, authors synthesize five bits of advice for physicians to improve patients' trust: a) be friendly to online information; b) take care of your personal aspect; c) show empathy, honesty, and competence; d) actively include patients in decision-making; and e) accept that we all make mistakes. (AU)

Introducción: La confianza en el médico se asocia con el cumplimiento del tratamiento, la permanencia del médico tratante, la disposición a recomendar al médico, la disminución de las disputas, la percepción de una mayor eficacia de la atención y la mejora de la autopercepción de la salud.Métodos.La presente revisión narrativa explora los factores que la literatura científica relaciona con la confianza en el médico y los organiza en los asociados a las características de los pacientes y los asociados a las del médico. El primer grupo incluye los antecedentes sociodemográficos del paciente, el estado de salud, la selección del médico, la experiencia en el sistema, la satisfacción y la simetría de perspectivas. El segundo grupo incluye las características sociodemográficas del médico, su apariencia física, la información en línea, la comunicación, la inteligencia emocional y la humildad.Resultados.A partir de esta revisión, los autores sintetizan cinco consejos de los médicos para mejorar la confianza de los pacientes: a) ser amable con la información en línea; b) cuidar el aspecto personal; c) mostrar empatía, honestidad y competencia; d) incluir activamente a los pacientes en la toma de decisiones; y e) aceptar que todos cometemos errores. (AU)

Compensación dentro de la Evaluación Ambiental en la Secretaría Técnica Nacional Ambiental (SETENA), Costa Rica

Introducción: La ley Orgánica del Ambiente 7554, señala a la Secretaría Técnica Nacional Ambiental (SETENA) como la institución encargada de evaluar y dar seguimiento a las medidas de compensación ambiental en Costa Rica. Objetivo: Exponer el marco jurídico y legislación que rige y aplica la SETENA en el tema de compensación ambiental. Métodos: Se describe brevemente un caso de estudio sobre como la compensación ha sido implementada en el país. Resultados: SETENA interpreta la compensación ambiental como un conjunto de medidas y acciones generadoras de beneficios ambientales que: 1) son proporcionales a impactos o perjuicios ambientales causados por el desarrollo de los proyectos siempre que no se puedan adoptar medidas de prevención, corrección o mitigación; y 2) constituyen una herramienta a utilizar durante la etapa de gestión ambiental, en la fase constructiva u operativa, cuando se evidencien incumplimientos a los compromisos ambientales adquiridos, faltas a la normativa ambiental, o daños ambientales identificados después de obtener la licencia ambiental para el proyecto. Conclusión: SETENA define los Planes de Compensación Ambiental como un procedimiento que sirve de guía para establecer la toma de acciones. Las medidas de compensación se establecen de acuerdo con el tipo de proyecto y hallazgos encontrados durante el monitoreo, por lo que no hay una estandarización para estos planes de compensación.

Introduction: The Organic Law of the Environment No. 7554 designates the National Environmental Technical Secretary (Spanish Acronym - SETENA) as the institution in charge of evaluating and following up on environmental compensation measures in Costa Rica. Objective: To expose the legal framework and legislation that governs and applies SETENA about environmental compensation in this country. Methods: A case study on how compensation has been implemented in the country is briefly described. Results: SETENA interprets environmental compensation as a set of measures and actions that generate environmental benefits that: 1) are proportional to the environmental impacts or damages caused by the development projects, provided that prevention, correction, or mitigation measures cannot be adopted; and 2) is a tool to be used during the environmental management stage, in the construction or operational phase, when there is evidence of non-compliance with the acquired environmental commitments, lack of environmental regulations, or environmental damage identified after reaching environmental approval for the project. Conclusion: SETENA defines the Environmental Compensation Plan as a procedure that serves as a guide to establish the actions to take. The compensation measures are dictated concerning the type of project and the findings encountered during its monitoring, which is why there is no standardization of these compensation plans.

Recomendaciones basadas en la evidencia sobre la nutrición e hidratación en los últimos días de vida / Evidence-based recommendations on nutrition and hydration in the last days of life

Resumen: Introducción: Los cuidados paliativos en México son contemplados como una necesidad en todos los niveles de atención. La nutrición e hidratación en estos enfermos hacia sus últimos días de vida es controversial. Objetivo: Identificar las recomendaciones basadas en la evidencia sobre la nutrición e hidratación en los últimos días de vida. Material y métodos: Se realizó una búsqueda documental sobre la nutrición e hidratación hacia el final de la vida tomando como marco temporal las últimas horas y/o los últimos días de vida del enfermo en el contexto hospitalario. Resultados: Con los criterios de búsqueda seleccionados se identificaron 83 documentos. No se encontraron metaanálisis. Existen dos revisiones sistematizadas de la literatura, un ensayo clínico, cuatro guías de práctica clínica, cuatro reportes de caso y 17 revisiones. Se desglosan los resultados relevantes de lo seleccionado. Conclusiones: Se identifica que existen controversias de fondo sobre la alimentación al final de la vida. Sobre la hidratación existe cierto consenso. Es indispensable contar con un nutriólogo dentro de los servicios de cuidados paliativos de la Nación.

Abstract: Introduction: Palliative care in Mexico is considered a necessity at all levels of care. Nutrition and hydration in these patients towards the last days of life is controversial. Objective: To identify evidence-based recommendations on nutrition and hydration in the last days of life. Material and methods: A documentary search on nutrition and hydration towards the end of life was carried out taking as a time frame the last hours and/or the last days of life of the patient in the hospital context. Results: With the selected search criteria, 83 documents were identified. No meta-analyses were found. There are two systematized literature reviews, one clinical trial, four clinical practice guidelines, four case reports and 17 reviews. The relevant results of the selected documents are broken down. Conclusions: It is identified that there are fundamental controversies about feeding at the end of life. On hydration there is some consensus. It is essential to have a nutritionist within the palliative care services of the Nation.

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Importance: Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective: To elucidate the genetic spectrum of UHS. Design, Setting, and Participants: This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021. Main Outcomes and Measures: Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes. Results: The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene. Conclusions and Relevance: This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on molecular genetic analyses of the largest worldwide collective of affected individuals, to our knowledge. Formerly, a diagnosis of UHS could only be made by physical examination of the patient and confirmed by microscopical examination of the hair shaft. The discovery of pathogenic variants in PADI3, TCHH, and TGM3 may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics for UHS.

Epigenetics Is Implicated in the Basis of Gender Incongruence: An Epigenome-Wide Association Analysis.

INTRODUCTION: The main objective was to carry out a global DNA methylation analysis in a population with gender incongruence before gender-affirming hormone treatment (GAHT), in comparison to a cisgender population. METHODS: A global CpG (cytosine-phosphate-guanine) methylation analysis was performed on blood from 16 transgender people before GAHT vs. 16 cisgender people using the Illumina© Infinium Human Methylation 850k BeadChip, after bisulfite conversion. Changes in the DNA methylome in cisgender vs. transgender populations were analyzed with the Partek® Genomics Suite program by a 2-way ANOVA test comparing populations by group and their sex assigned at birth. RESULTS: The principal components analysis (PCA) showed that both populations (cis and trans) differ in the degree of global CpG methylation prior to GAHT. The 2-way ANOVA test showed 71,515 CpGs that passed the criterion FDR p < 0.05. Subsequently, in male assigned at birth population we found 87 CpGs that passed both criteria (FDR p < 0.05; fold change ≥ ± 2) of which 22 were located in islands. The most significant CpGs were related to genes: WDR45B, SLC6A20, NHLH1, PLEKHA5, UBALD1, SLC37A1, ARL6IP1, GRASP, and NCOA6. Regarding the female assigned at birth populations, we found 2 CpGs that passed both criteria (FDR p < 0.05; fold change ≥ ± 2), but none were located in islands. One of these CpGs, related to the MPPED2 gene, is shared by both, trans men and trans women. The enrichment analysis showed that these genes are involved in functions such as negative regulation of gene expression (GO:0010629), central nervous system development (GO:0007417), brain development (GO:0007420), ribonucleotide binding (GO:0032553), and RNA binding (GO:0003723), among others. STRENGTHS AND LIMITATIONS: It is the first time that a global CpG methylation analysis has been carried out in a population with gender incongruence before GAHT. A prospective study before/during GAHT would provide a better understanding of the influence of epigenetics in this process. CONCLUSION: The main finding of this study is that the cis and trans populations have different global CpG methylation profiles prior to GAHT. Therefore, our results suggest that epigenetics may be involved in the etiology of gender incongruence.

Implications of the Estrogen Receptor Coactivators SRC1 and SRC2 in the Biological Basis of Gender Incongruence.

INTRODUCTION: Brain sexual differentiation results from the effects of sex steroids on the developing brain. The presumptive route for brain masculinization is the direct induction of gene expression via activation of the estrogen receptors α and ß and the androgen receptor through their binding to ligands and to coactivators, regulating the transcription of multiple genes in a cascade effect. AIM: To analyze the implication of the estrogen receptor coactivators SRC-1, SRC-2, and SRC-3 in the genetic basis of gender incongruence. MAIN OUTCOME MEASURES: Analysis of 157 polymorphisms located at the estrogen receptor coactivators SRC-1, SRC-2, and SRC-3, in 94 transgender versus 94 cisgender individuals. METHOD: Using SNPStats software, the allele and genotype frequencies were analyzed by χ2, the strength of the association was measured by binary logistic regression, estimating the odds ratio for each genotype. Measurements of linkage disequilibrium and haplotype frequencies were also performed. RESULTS: We found significant differences at level P < .05 in 8 polymorphisms that correspond to 5.09% of the total. Three were located in SRC-1 and 5 in SRC-2. The odds ratio analysis showed significant differences at level P < .05 for multiple patterns of inheritance. The polymorphisms analyzed were in linkage disequilibrium. The SRC-1 haplotypes CGA and CGG (global haplotype association P < .009) and the SRC-2 haplotypes GGTAA and GGTAG (global haplotype association P < .005) were overrepresented in the transgender population. CONCLUSION: The coactivators SRC-1 and SRC-2 could be considered as candidates for increasing the list of potential genes for gender incongruence. Ramírez KDV, Fernández R, Delgado-Zayas E, et al. Implications of the Estrogen Receptor Coactivators SRC1 and SRC2 in the Biological Basis of Gender Incongruence. Sex Med 2021;9:100368.

Alteraciones electrocardiográficas periictales en pacientes pediátricos con epilepsia. Un estudio prospectivo / Peri-ictal electrocardiographic alterations in paediatric epilepsy patients. A prospective study

INTRODUCCIÓN: Las crisis epilépticas pueden asociarse a alteraciones del ritmo cardíaco periictales e incluso a muerte súbita (SUDEP). Existen escasos estudios pediátricos al respecto. OBJETIVO: Determinar las alteraciones del ritmo cardíaco en pacientes pediátricos con epilepsia estudiados con videoelectroencefalograma (video-EEG). MÉTODOS: Estudio prospectivo, observacional, en pacientes menores de 18 años ingresados para video-EEG en el Hospital Clínico Red de Salud UC-Christus, Santiago, Chile. Se realizó una evaluación neurológica y cardiológica, electrocardiograma (ECG) y Holter ECG simultáneo al video-EEG. RESULTADOS: Se estudió a 25 pacientes, 12 con epilepsias refractarias, 23/25 focales y 20 en tratamiento con politerapia. Se registraron 768 horas de video-EEG, incluyendo 281 crisis epilépticas en 15 pacientes: 157 clínicas y 103 generalizadas. No hubo arritmias graves; sólo alteraciones inespecíficas o probablemente benignas, principalmente bloqueo incompleto de la rama derecha en 11 pacientes, más frecuente en las epilepsias refractarias (p < 0,036). La variación de la frecuencia cardíaca ocurrió principalmente en crisis > 30 segundos. Ningún paciente ha presentado SUDEP. CONCLUSIONES: Éste es el primer estudio prospectivo, con una nueva técnica, usando simultáneamente video-EEG y Holter ECG en pediatría. Pese al alto número de crisis y pacientes refractarios, no encontramos alteraciones graves del ritmo cardíaco, en concordancia con la evaluación clínica. El bloqueo de la rama derecha se considera un hallazgo cardiológico no patológico, pero tuvo una alta prevalencia en nuestra muestra, comparada con la población normal, especialmente en la epilepsia refractaria. Dado que la SUDEP es un evento grave en la epilepsia, es importante ahondar más en este tipo de estudios para evaluar medidas preventivas

INTRODUCTION: Epileptic seizures can be associated with peri-ictal heart rhythm disorders and even sudden death (SUDEP). Few paediatric studies have been conducted on the subject. AIM: To determine heart rhythm disorders in paediatric patients with epilepsy who were studied with video-electroencephalogram (video-EEG). METHODS: Prospective, observational study in patients under 18 years of age admitted for video-EEG at the Hospital Clínico Red de Salud UC-Christus, Santiago, Chile. A neurological and cardiological evaluation and electrocardiogram (ECG) were performed, in addition to a Holter ECG simultaneously with the video-EEG. RESULTS: Twenty-five patients were studied, 12 with refractory epilepsies, 23/25 focal and 20 on polytherapy. Altogether 768 hours of video-EEG were recorded, including 281 seizures in 15 patients: 157 clinical and 103 generalised. There were no serious arrhythmias, only non-specific or probably benign disorders, mainly incomplete right bundle branch block in 11 patients, which were more frequent in refractory epilepsies (p < 0.036). Heart rate variation occurred mainly in seizures >30 seconds. No patient presented SUDEP. CONCLUSIONS: This is the first prospective study, with a new technique, using video-EEG and Holter ECG simultaneously in paediatrics. Despite the high number of seizures and refractory patients, we found no serious heart rhythm disorders, consistent with the clinical evaluation. Right bundle branch block is considered a non-pathological cardiological finding, but was highly prevalent in our sample compared to the normal population, especially in refractory epilepsy. Given that this is a serious event in epilepsy, it is important to further investigate such studies to assess preventive measures

Yeast Surface Display System: Strategies for Improvement and Biotechnological Applications.

Yeast surface display (YSD) is a "whole-cell" platform used for the heterologous expression of proteins immobilized on the yeast's cell surface. YSD combines the advantages eukaryotic systems offer such as post-translational modifications, correct folding and glycosylation of proteins, with ease of cell culturing and genetic manipulation, and allows of protein immobilization and recovery. Additionally, proteins displayed on the surface of yeast cells may show enhanced stability against changes in temperature, pH, organic solvents, and proteases. This platform has been used to study protein-protein interactions, antibody design and protein engineering. Other applications for YSD include library screening, whole-proteome studies, bioremediation, vaccine and antibiotics development, production of biosensors, ethanol production and biocatalysis. YSD is a promising technology that is not yet optimized for biotechnological applications. This mini review is focused on recent strategies to improve the efficiency and selection of displayed proteins. YSD is presented as a cutting-edge technology for the vectorial expression of proteins and peptides. Finally, recent biotechnological applications are summarized. The different approaches described herein could allow for a better strategy cascade for increasing protein/peptide interaction and production.

Microbial prospection of communities that produce biosurfactants from the water column and sediments of the Gulf of Mexico.

Microbial communities capable of hydrocarbon degradation linked to biosurfactant (BS) and bioemulsifier (BE) production are basically unexplored in the Gulf of México (GOM). In this work, the BS and BE production of culturable marine bacterial hydrocarbonoclasts consortia isolated from two sites (the Perdido Fold Belt and Coatzacoalcos area) was investigated. The prospection at different locations and depths led to the screening and isolation of a wide variety of bacterial consortia with BS and BE activities, after culture enrichment with crude oil and glycerol as the carbon sources. At least 55 isolated consortia presented reduction in surface tension (ST) and emulsifying activity (EI24 ). After colony purification, bacteria were submitted to polyphasic analysis assays that resulted in the identification of different strains of cultivable Gammaproteobacteria Gram (-) Citrobacter, Enterobacter, Erwinia, Pseudomonas, Vibrio, Shewanella, Thalassospira, Idiomarina, Pseudoalteromonas, Photobacterium, and Gram (+) Staphylococcus, Bacillus, and Microbacterium. Overall, the best results for ST reduction and EI24 were obtained with consortia. Individually, Pseudomonas, Bacillus, and Enterobacter strains showed the best results for the reduction of ST after 6 days, while Thalassospira and Idiomarina strains showed the best results for EI24 (above 68% after 9 days). Consortia isolates from the GOM had the ability to degrade crude oil by up to 40-80% after 24 and 36 months, respectively. In all cases, biodegradation of crude oil was related to the reduction in ST and bioemulsifying activity and was independent from the depth in the water column.

Muerte Súbita en Epilepsia (SUDEP): Encuesta a familiares de pacientes con epilepsia y a profesionales de la salud / Sudden unexpected death in epilepsy (SUDEP): Epilepsy Family and Survey health professionals

Sudden unexpected death in epilepsy (SUDEP), definida como la muerte brusca, inesperada, con o sin testigos, no traumática ni por ahogo, que ocurre en circunstancias benignas, en un individuo con epilepsia, con o sin evidencias de crisis, pero sin estado epiléptico. En general, afecta sobre todo a pacientes con epilepsia refractaria. La incidencia es de 4-7/1000 pacientes al año. En nuestra región, no contamos con muchos datos epidemiológicos de SUDEP, lo cual es un desafío a investigar, ya que sabemos que el 85% de los pacientes con epilepsia viven en países en desarrollo. Es muy importante que los pacientes y/o familiares conozcan sobre SUDEP, ya que ayuda a lograr mejor lo objetivos de tratamiento, promueve mejor el reporte médico-paciente, disminuye ansiedad, filtra la información inadecuada y creencias inapropiadas. Pero es necesario preguntarles a ellos, cuanto saben de SUDEP, cómo, que y cuando recibir esta información. Existen países y culturas donde está vedado hablar de SUDEP. Tampoco conocemos cómo los médicos manejamos el tema, cuando decirlo, que contar y cómo hacerlo. Por otro lado, hay controversias entre los epileptólogos, en qué momento tratar la temática. Por este motivo, se realiza una encuesta a pacientes con epilepsia y/o familiares, además de especialistas médicos. El objetivo es evaluar si los colegas especialistas están hablando del tema y por otro lado constatar los conocimientos de SUDEP en los pacientes y/o familiares. Los resultados de la encuesta, arrojan que la mayoría de los médicos no habla del tema y la mayor parte de los familiares de pacientes con epilepsia desea conocer la temática al inicio de la enfermedad, contada por el médico. Gran número de ellos se ha informado por redes sociales y creen que es prevenible.

Sudden unexpected death in epilepsy (SUDEP), is defined as sudden, unexpected death, with or without witnesses, neither traumatic nor by choking, occurring in benign circumstances in an individual with epilepsy, with or without evidence of crisis, but without epileptic status. In general, it mainly affects patients with refractory epilepsy. The incidence is 4-7/1000 patients per year. In our region, we do not have much epidemiological data about SUDEP, which is a challenge to investigate, as we know that 85% of epilepsy patients live in developing countries. It is important to ask patients and/or family members how much do they know about SUDEP and how as well as when to receive this information. It is important that parents and/or family members know about SUDEP, as it helps to better achieve treat ment goals, better promotes doctor-patient reporting, decreases anxiety, filters inadequate information and inappropriate beliefs. There are countries and cultures where it is forbidden to talk about SUDEP. We also do not know how doctors handle the subject, when to talk about it, what to tell and how to do it. On the other hand, there are controversies among epileptologists at which point to deal with this subject. For this reason, a survey is conducted on parents of children with epilepsy and/or family members, as well as medical specialists. The objective is to be able to evaluate how specialist colleagues are talking about the topic and on the other hand evaluate some parameters of SUDEP in parents and/or family members. Most doctors do not talk about it and most relatives of epilepsy patients want to know the topic of the onset of the disease form their doctor. Large numbers of them have gathered information on SUDEP through social networks and believe it is preventable.

Gender-Affirming Hormone Therapy Modifies the CpG Methylation Pattern of the ESR1 Gene Promoter After Six Months of Treatment in Transmen.

BACKGROUND: Brain sexual differentiation is a process that results from the effects of sex steroids on the developing brain. Evidence shows that epigenetics plays a main role in the formation of enduring brain sex differences and that the estrogen receptor α (ESR1) is one of the implicated genes. AIM: To analyze whether the methylation of region III (RIII) of the ESR1 promoter is involved in the biological basis of gender dysphoria. METHODS: We carried out a prospective study of the CpG methylation profile of RIII (-1,188 to -790 bp) of the ESR1 promoter using bisulfite genomic sequencing in a cisgender population (10 men and 10 women) and in a transgender population (10 trans men and 10 trans women), before and after 6 months of gender-affirming hormone treatment. Cisgender and transgender populations were matched by geographical origin, age, and sex. DNAs were treated with bisulfite, amplified, cloned, and sequenced. At least 10 clones per individual from independent polymerase chain reactions were sequenced. The analysis of 671 bisulfite sequences was carried out with the QUMA (QUantification tool for Methylation Analysis) program. OUTCOMES: The main outcome of this study was RIII analysis using bisulfite genomic sequencing. RESULTS: We found sex differences in RIII methylation profiles in cisgender and transgender populations. Cismen showed a higher methylation degree than ciswomen at CpG sites 297, 306, 509, and at the total fragment (P ≤ .003, P ≤ .026, P ≤ .001, P ≤ .006). Transmen showed a lower methylation level than trans women at sites 306, 372, and at the total fragment (P ≤ .0001, P ≤ .018, P ≤ .0107). Before the hormone treatment, transmen showed the lowest methylation level with respect to cisgender and transgender populations, whereas transwomen reached an intermediate methylation level between both the cisgender groups. After the hormone treatment, transmen showed a statistically significant methylation increase, whereas transwomen showed a non-significant methylation decrease. After the hormone treatment, the RIII methylation differences between transmen and transwomen disappeared, and both transgender groups reached an intermediate methylation level between both the cisgender groups. CLINICAL IMPLICATIONS: Clinical implications in the hormonal treatment of trans people. STRENGTHS & LIMITATIONS: Increasing the number of regions analyzed in the ESR1 promoter and increasing the number of tissues analyzed would provide a better understanding of the variation in the methylation pattern. CONCLUSIONS: Our data showed sex differences in RIII methylation patterns in cisgender and transgender populations before the hormone treatment. Furthermore, before the hormone treatment, transwomen and transmen showed a characteristic methylation profile, different from both the cisgender groups. But the hormonal treatment modified RIII methylation in trans populations, which are now more similar to their gender. Therefore, our results suggest that the methylation of RIII could be involved in gender dysphoria. Fernández R, Ramírez K, Gómez-Gil E, et al. Gender-Affirming Hormone Therapy Modifies the CpG Methylation Pattern of the ESR1 Gene Promoter After Six Months of Treatment in Transmen. J Sex Med 2020;17:1795-1806.

Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence.

INTRODUCTION: Gender incongruence defines a state in which individuals feel discrepancy between the sex assigned at birth and their gender. Some of these people make a social transition from male to female (trans women) or from female to male (trans men). By contrast, the word cisgender describes a person whose gender identity is consistent with their sex assigned at birth. AIM: To analyze the implication of the estrogen receptor α gene (ESR1) in the genetic basis of gender incongruence. MAIN OUTCOME MEASURES: Polymorphisms rs9478245, rs3138774, rs2234693, rs9340799. METHOD: We carried out the analysis of 4 polymorphisms located at the promoter of the ESR1 gene (C1 = rs9478245, C2 = rs3138774, C3 = rs2234693, and C4 = rs9340799) in a population of 273 trans women, 226 trans men, and 537 cis gender controls. For SNP polymorphisms, the allele and genotype frequencies were analyzed by χ2 test. The strength of the SNP associations with gender incongruence was measured by binary logistic regression. For the STR polymorphism, the mean number of repeats were analyzed by the Mann-Whitney U test. Measurement of linkage disequilibrium and haplotype frequencies were also performed. RESULTS: The C2 median repeats were shorter in the trans men population. Genotypes S/S and S/L for the C2 polymorphism were overrepresented in the trans men group (P = .012 and P = .003 respectively). We also found overtransmission of the A/A genotype (C4) in the trans men population (P = .017), while the A/G genotype (C4) was subrepresented (P = .009]. The analyzed polymorphisms were in linkage disequilibrium. In the trans men population, the T(C1)-L(C2)-C(C3)-A(C4) haplotype was overrepresented (P = .019) while the T(C1)-L(C2)-C(C3)-G(C4) was subrepresented (P = .005). CONCLUSION: The ESR1 is associated with gender incongruence in the trans men population. Fernández R, Delgado-Zayas E,RamírezK, et al. Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence. Sex Med 2020;8:490-500.

Efectividad a 3 y 6 meses de una intervención integral para caries dental. En escolares de Santiago de María, Usulután; Ilobasco, Cabañas; Lourdes Colón, Santa tecla y Tamanique, La Libertad / Effectiveness at 3 and 6 months of an integral intervention for dental caries. In schoolchildren from Santiago de María, Usulután; Ilobasco, Cabins; Lourdes Colón, Santa Key and Tamanique, La Libertad

Objetivo: Determinar la efectividad a 3 y 6 meses de una intervención para prevenir y tratar la caries en dientes permanentes, en escolares de 9-11 años, atendidos por cinco establecimientos de salud en el año 2017. Metodología: Esta investigación fue una intervención comunitaria, de tipo cuasi-experimental con grupo control pre-post, en 150 escolares. En total fueron ejecutados 1,970 tratamientos; de los cuales 165 fueron remineralizaciones de flúor barniz; 1501 sellantes y 304 obturaciones; acompañados de educación en higiene oral. Las variables analizadas fueron: reducción de placa dentobacteriana; prevención y limitación del daño de lesiones cariosas y supervivencia de los tratamientos ejecutados. La prueba estadística utilizada fue la de Wilcoxon, el Análisis de la Varianza (ANOVA), tomando en cuenta la F de Fisher y la Significancia. Resultados: El diagnóstico de placa dentobacteriana óptimo fue de 52.67% en la evaluación inicial, el cual 6 meses después de la intervención incrementó a un 78.67%. En los SFF se encontró una supervivencia a los 3 y 6 meses de 97.25% y 82.27%, y en las obturaciones de 100% y 98.03% respectivamente. En cuanto a la afectación por caries dental inicial se identificó un 18.34%, luego de la intervención se redujo a 4.72%. Conclusión: La intervención mostró a 3 y 6 meses, ser efectiva para prevenir y tratar caries dental en dientes permanentes.

Objective: To determine the effectiveness to 3 and 6 months of an intervention to prevent and treat caries in permanent teeth, in schoolchildren of 9-11 years, attended by five health establishments in the year 2017. Methodology: This research was a community intervention, of quasiexperimental type with pre-post control group, in 150 schoolchildren. In total, 1.970 treatments were executed; of which 165 were remineralization of fluoride varnish; 1501 sealants and 304 fillings; accompanied by oral hygiene education. The variables analyzed were: reduction of dental plaque; prevention and limitation of damage to carious lesions and survival of the treatments performed. The statistical test used was that of Wilcoxon, the Kaplan Meier Survival Estimator, the variance analysis (ANOVA), taking into account Fisher's F and significance. Results: The dental plaque initial diagnosis was optimum with a 52.67% on first evaluation, this increased to a 78.67% after 6 months of intervention. In sealants were found a survival of 97.25% and 85.27% after 3 and 6 months of intervention; in fillings the survival was of 100% and 98.03% respectively. In regards of caries affectation, an 18.34% was identified on initial evaluation, after intervention this was reduced to a 4-72%. Conclusión: The intervention showed within 3 and 6 months, to be effective to prevent and treat dental caries in permanent teeth.

[Brecha de género en la autoría de artículos publicados en el Boletín Médico del Hospital Infantil de México]. / Gender gap in the authorship of published articles in the Boletín Médico del Hospital Infantil de México.

Introducción: La participación de las mujeres en medicina ha incrementado en las últimas décadas, incluyendo mayor representatividad en la autoría de artículos científicos en diversos países y distintas especialidades. El objetivo del estudio fue analizar las diferencias de género en la autoría de artículos a través de la historia del Boletín Médico del Hospital Infantil de México. Métodos: Se realizó un análisis bibliométrico de los artículos originales publicados en los años 1953, 1963, 1973, 1983, 1993, 2003 y 2013. Se identificó el género de los autores, tipo de autoría (primer autor o autor correspondiente) y el diseño de estudio (descriptivo vs. analítico). Se evaluó la diferencia en la proporción de género y la tendencia en el tiempo. Resultados: Se incluyeron 272 artículos. Se observó una reducción en la brecha de género entre 1953 y 2013. La participación de las mujeres como primeras autoras incrementó del 2 al 63% (p < 0.001) y como correspondiente del 27 al 59% (p < 0.001). Al considerar únicamente estudios analíticos, el incremento fue del 25 al 50% como primera autora (p = 0.03), con un cambio similar como autor correspondiente, pero sin una tendencia significativa en el tiempo (p = 0.19). La reducción en la brecha de género fue más notoria a partir del periodo 1983-1993. Conclusiones: En las últimas décadas ha existido un incremento significativo en la autoría de las mujeres en el Boletín Médico del Hospital Infantil de México, llegando incluso a una mayor proporción en relación con el sexo masculino. Lo anterior es un reflejo del papel actual de las mujeres en la medicina; en particular, en el área pediátrica. Background: Women's participation in medicine has increased in the last decades, with greater representativeness in the authorship of scientific articles in many countries and different specialties. The objective of this research was to analyze the gender gap in the authorship of articles through the history of the medical journal Boletín Médico del Hospital Infantil de México. Methods: In a bibliometric analysis, we reviewed original articles published during the years 1953, 1963, 1973, 1983, 1993, 2003 and 2013. The gender of the author, type of authorship (first author or corresponding author) and the design of the study (descriptive vs analytic) were identified. We evaluated the difference between gender proportion and trends over time. Results: We included 272 articles. We observed a gender gap reduction between 1953 and 2013. The participation of women as first author increased from 2 to 63% (p < 0.001) and as corresponding author from 27 to 59% (p < 0.001). If we include only analytic studies, the increasing was 25 to 50% as first author (p = 0.03), with a similar tendency as corresponding author, but without a statistical significant on time (p = 0.19). We observed the most notable change since 1983-1993. Conclusions: In the last decades, there has been a significant increase in women´s authorship in the medical journal Boletín Médico del Hospital Infantil de México, even reaching a greater proportion against male gender. This reflects the present role of women in medicine, particularly in pediatrics.