Serotype distribution, clinical characteristics, and antimicrobial resistance of pediatric invasive pneumococcal disease in Colombia during PCV10 mass vaccination (2017-2022).

Introduction: Invasive Pneumococcal Disease (IPD) causes significant morbidity and mortality in children under 5 y. Colombia introduced PCV10 vaccination in 2012, and the Neumocolombia network has been monitoring IPD in pediatric patients since 2008. Materials and methods: This study is a secondary analysis of a prospective cohort involving pediatric patients with IPD admitted to 17 hospitals in Colombia, from January 1st, 2017, to December 31st, 2022. We present data on serotypes (Spn), clinical characteristics, and resistance patterns. Results: We report 530 patients, 215 (40.5%) were younger than 24 months. Among these, 344 cases (64.7%) presented with pneumonia, 95 (17.9%) with primary bacteremia, 53 (10%) with meningitis, 6 (1.1%) had pneumonia and meningitis, and 32 (6%) had other IPD diagnosis. The median hospital stay was 12 days (RIQ 8-14 days), and 268 (50.6%) were admitted to the ICU, of whom 60 (11.3%) died. Serotyping was performed in 298 (56.1%). The most frequent serotypes were Spn19A (51.3%), Spn6C (7.7%), Spn3 (6.7%), Spn6A (3.6%), and Spn14 (3.6%). Of 495 (93%) isolates with known susceptibility, 46 (9.2%) were meningeal (M) and 449 (90.7%) non-meningeal (NM). Among M isolates, 41.3% showed resistance to penicillin, and 21.7% decreased susceptibility to ceftriaxone. For NM isolates, 28.2% had decreased susceptibility to penicilin, and 24.2% decreased susceptibility to ceftriaxone. Spn19A showed the highest resistant to penicillin at 47% and was linked to multiresistance. Conclusion: The prevalence of PCV10-included serotypes decreased, while serotypes 19A and 6C increased, with Spn19A being associated with multiresistance. These findings had played a crucial role in the decision made by Colombia to modify its immunization schedule by switching to PCV13 in July 2022.

Epidemiological and microbiological characteristics of S. aureus pediatric infections in Colombia 2018-2021, a national multicenter study (Staphylored Colombia).

Background: Staphylococcus aureus infections are a significant cause of morbidity and mortality in pediatric populations worldwide. The Staphylo Research Network conducted an extensive study on pediatric patients across Colombia from 2018 to 2021. The aim of this study was to describe the epidemiological and microbiological characteristics of S. aureus in this patient group. Methods: We analyzed S. aureus isolates from WHONET-reporting centers. An "event" was a positive culture isolation in a previously negative individual after 2 weeks. We studied center characteristics, age distribution, infection type, and antibiotic susceptibilities, comparing methicillin sensitive (MSSA) and resistant S. aureus (MRSA) isolates. Results: Isolates from 20 centers across 7 Colombian cities were included. Most centers (80%) served both adults and children, with 55% offering oncology services and 85% having a PICU. We registered 8,157 S. aureus culture isolations from 5,384 events (3,345 MSSA and 1,961 MRSA) in 4,821 patients, with a median age of 5 years. Blood (26.2%) and skin/soft tissue (18.6%) were the most common infection sources. Most isolates per event remained susceptible to oxacillin (63.2%), clindamycin (94.3%), and TMP-SMX (98.3%). MRSA prevalence varied by city (<0.001), with slightly higher rates observed in exclusively pediatric hospitals. In contrast, the MRSA rate was somewhat lower in centers with Antimicrobial Stewardship Program (ASP). MRSA was predominantly isolated from osteoarticular infections and multiple foci, while MSSA was more frequently associated with recurrent infections compared to MRSA. Conclusions: This is the largest study of pediatric S. aureus infections in Colombia. We found MSSA predominance, but resistance have important regional variations. S. aureus remains susceptible to other commonly used antibiotics such as TMP-SMX and clindamycin. Ongoing monitoring of S. aureus infections is vital for understanding their behavior in children. Prospective studies within the Staphylored LATAM are underway for a more comprehensive clinical and genetic characterization.

Clinical and microbiological characterization of Salmonella spp. isolates from patients treated in a university hospital in South America between 2012-2021: a cohort study.

BACKGROUND: Salmonellosis is a major cause of morbidity and mortality and one of the most frequent etiologies of diarrhea in the world. Mortality due to Salmonellosis in Latin America still poorly understood, and there is a lack of studies that evaluate resistance and clinical manifestations. The aims of this study were to characterize patients infected with Salmonella spp. seen in a university hospital in Colombia between 2012 and 2021, to evaluate trends in antibiotic resistance and to determine the proportion of overall mortality and related factors. METHODS: Retrospective observational study. All patients with microbiological diagnosis of Salmonella spp. were included. The sociodemographic, clinical and microbiological characteristics were described, and the proportion of antibiotic resistant isolates per year was estimated. The prevalence of mortality according to age groups was calculated. Log binomial regression models were used to establish factors associated with mortality. RESULTS: Five hundred twenty-two patients were analyzed. Salmonellosis accounted for 0.01% of all medical consultations. The median age was 16 years old. The most common clinical presentation was gastroenteric syndrome (77.1%) and symptoms included diarrhea (79.1%), fever (66.7%), abdominal pain (39.6%) and vomiting (35.2%). Of the Salmonella spp. isolates, 78.2% were not classified, 19.1% corresponded to non-typhoidal Salmonella and 2.7% to Salmonella typhi. Mortality occurs in 4.02% of the patients and was higher in patients with hematologic malignancy (11.6%). When analyzing by age group, the proportion of deaths was 2.8% in patients aged 15 years or younger, while in those older than 15 years it was 5.4%. Factors associated to mortality where bacteremia (aPR = 3.41 CI95%: 1.08-10.76) and to require treatment in the ICU (aPR = 8.13 CI95%: 1.82-37.76). In the last 10 years there has been a steady increase in resistance rates to ciprofloxacin, ampicillin, ampicillin/sulbactam and ceftriaxone, reaching rates above 60% in recent years. CONCLUSIONS: Despite improved availability of antibiotics for the treatment of salmonellosis in the past decades, mortality due to salmonellosis continues occurring in children and adults, mainly in patients with hematological malignancies and bacteremia. Antibiotic resistance rates have increased significantly over the last 10 years. Public health strategies for the control of this disease should be strengthened, especially in vulnerable populations.

First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes.

INTRODUCTION: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton tyrosine kinase (BTK) gene. CASE REPORT: A 14-year-old Colombian patient with clinical characteristics of Bruton agammaglobulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. DISCUSSION: Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature.

First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes

Introduction: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton tyrosine kinase (BTK) gene. Case report: A 14-year-old Colombian patient with clinical characteristics of Bruton agammaglobulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. Discussion: Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature (AU)

Experience of Caring as Source of Abductive Reasoning in Nursing: a Pragmatic Vision / Experiencia de cuidado como fuente del razonamiento abductivo en enfermería: una mirada pragmática / A experiência do cuidado como fonte do raciocínio abdutivo em enfermagem: um olhar pragmático

The aim of this reflection article consists in proposing a methodology that makes visible the epistemic practice through abductive reasoning for the generation of knowledge from an experience of caring. For such, the work describes the connections between the science of nursing and inter-modernism, develops the idea of the nursing practice as source of knowledge, and defines the components of abductive reasoning for the practice. Finally, the work presents an academic exercise developed within the framework of the assignment Evaluation of the theory for research and practice in the PhD program in nursing at Universidad Nacional de Colombia on how a theory was developed from a situation of care and its scientific usefulness upon generating in patients a sense of fullness in their health and in nursing professionals, satisfaction with their work.

El objetivo del presente artículo de reflexión consiste en proponer una metodología que visibilice la práctica epistémica mediante el razonamiento abductivo para la generación de conocimiento a partir de una experiencia de cuidado. Para ello, se describen las conexiones entre la ciencia de enfermería y el intermodernismo, se desarrolla la idea de la práctica de enfermería como fuente de conocimiento y se definen los componentes del razonamiento abductivo para la práctica. Finalmente, se presenta un ejercicio académico desarrollado en el marco de la asignatura Evaluación de la teoría para la investigación y la práctica del programa de Doctorado en Enfermería de la Universidad Nacional de Colombia sobre cómo se desarrolló una teoría a partir de una situación de cuidado y su utilidad científica al generar en el paciente una sensación de plenitud en su salud y en el profesional de enfermería, satisfacción con su labor

O objetivo deste artigo de reflexão é propor uma metodologia que torne visível a prática epistêmica por meio do raciocínio abdutivo para a geração de conhecimento a partir de uma experiência de cuidado. Para tanto, descrevem-se as conexões entre a ciência da enfermagem e o intermodernismo, desenvolve-se a ideia da prática de enfermagem como fonte de conhecimento e define-se os componentes do raciocínio abdutivo para a prática. Por fim, apresenta-se um exercício acadêmico desenvolvido no âmbito da disciplina Avaliação da teoria para pesquisa e prática do programa de Doutorado em Enfermagem da Universidade Nacional da Colômbia sobre como se desenvolveu uma teoria a partir de uma situação de cuidado e sua utilidade científica gerando no paciente uma sensação de plenitude em sua saúde e no profissional de enfermagem, satisfação com seu trabalho

Risk factors and incidence of cytomegalovirus viremia and disease in pediatric patients with allogeneic hematopoietic stem cell transplantation: An 8-year single-center experience in Latin America.

BACKGROUND: Cytomegalovirus infection represents a significant cause of morbidity and mortality after hematopoietic stem cell transplantation. This study aimed to evaluate the incidence of viremia and disease due to cytomegalovirus and the risk factors in pediatric patients with hematopoietic stem cell transplantation in our institution. METHODS: This was a retrospective cohort of patients under 19 years of age who underwent allogeneic hematopoietic stem cell transplantation due to any indication between 2012 and 2019. The analysis included the diagnosis of cytomegalovirus viremia or disease during post-transplant follow-up, evaluation of risk factors, and outcomes. The statistical analysis included univariate and multivariate analyses, and the cumulative incidence of cytomegalovirus viremia was determined by the Kaplan-Meier method using STATA 14 statistical software. RESULTS: A total of 182 transplants were included. At 100 days, the cumulative incidence of cytomegalovirus viremia was 70.5%, and that of cytomegalovirus disease was 4.7%. Overall survival at 2 years was 74%, and event-free survival was 64%. The remaining demographic characteristics were not predictors of infection. There was no association between viremia and relapse or survival of the patients. Higher mortality was noted in cytomegalovirus disease. CONCLUSIONS: During the study period, the incidence of cytomegalovirus disease was similar to that of other pediatric reports, but the incidence of viremia was higher. Pre-emptive therapy has diminished disease rates and death due to infection. Viral load cutoff points should be standardized to guide treatment and avoid myelotoxicity.

Epidemiological characteristics and serotype distribution of culture-confirmed pediatric pneumococcal pneumonia before and after PCV 10 introduction, a multicenter study in Bogota, Colombia, 2008-2019.

BACKGROUND: Pneumococcal conjugate vaccines (PCVs) have decreased pneumonia in children. Colombia introduced mass vaccination with PCV10 in 2012. METHODS: Cases of pneumococcal pneumonia from 10 hospitals were included. Two periods were compared: pre-PCV10: 2008-2011 and post-PCV10: 2014-2019. The objective was to compare epidemiological and clinical characteristics before and after PCV10 vaccination. RESULTS: A total of 370 cases were included. Serotypes 1 (15, 11.2%) and 14 (33, 24.6%) were the most frequent in the pre-PCV10 period, with only 4 (3%) cases of serotype 19A and 1 case (0.7%) serotype 3. From the pre-PCV10 period to the post-PCV10 period, cases of serotypes 1 (6, 3.1%) and 14 (1, 7.8%) decreased, while cases of serotypes 19A (58, 30.2%), serotype 3 (32, 16.7%) and 6A (7, 3.6%) increased (p < 0.001); complicated pneumonia (CP) increased significantly (13.4% to 31.8%) (p < 0.001); hospitalizations increased from 8 (5.5-15) to 12 (7-22) days (p < 0.001); and the frequency of PICU admission increased from 32.8% to 51.6% (p = 0.001). The use of ampicillin-sulbactam (0.7% to 24%) and ceftriaxone/clindamycin (0.7% to 5.7%) increased in the post-PCV10 period. The duration of empirical antibiotic treatment was 7 (4-11) days in the pre-PCV10 period and increased to 10 (6-17) days (p < 0.001) in the post-PCV10 period. Lethality showed a slight nonsignificant increase (7.5% vs. 9.9%; p = 0.57) in the post-PCV10 period. CONCLUSIONS: PCV10 significantly decreased cases of serotypes 1 and 14, with an increase in cases of serotypes 19A, 3 and 6A, which were the predominant serotypes and had greater severity (e.g., admission to the PICU, CP and more resistance, with an increase in the use of broad-spectrum antibiotics and longer hospitalization) and subsequently included in PCV13. Current data support national and regional evidence on the importance of replacing PCV10 with a higher valence that includes 19A, such as PCV13, with the aim of reducing circulation, particularly of this serotype.

Experience of Caring as Source of Abductive Reasoning in Nursing: a Pragmatic Vision.

OBJECTIVES: The aim of this reflection article consists in proposing a methodology that makes visible the epistemic practice through abductive reasoning for the generation of knowledge from an experience of caring. For such, the work describes the connections between the science of nursing and inter-modernism, develops the idea of the nursing practice as source of knowledge, and defines the components of abductive reasoning for the practice. Finally, the work presents an academic exercise developed within the framework of the assignment Evaluation of the theory for research and practice in the PhD program in nursing at Universidad Nacional de Colombia on how a theory was developed from a situation of care and its scientific usefulness upon generating in patients a sense of fullness in their health and in nursing professionals, satisfaction with their work.

Gender Dysphoria Publication Trends: A Bibliometric Analysis between 1900 and 2018 / Tendencias de publicación sobre disforia de género: Un análisis bibliométrico entre 1900 y 2018

Objective Research on gender dysphoria (GD) has been growing over the last decades with increasing interest in understanding and characterizing the causal relationships between psychological, genetics, hormonal, and sociocultural factors. Changes and acceptance of this condition as non-pathologic have led to significant changes in general perspective and its management over time. Our objective is to carry out a bibliometric analysis to know the publication trends and quality of evidence related to gender dysphoria. Methods A systematic search and critical review of the literature was carried out between January 1900 and December 2018 to perform a bibliometric analysis. Research was done in the following databases: OVID, PubMed, EMBASE, Scopus, Web of Science and Google Scholar. The medical subject headings (MeSh) terms used were: gender dysphoria; and surgery and psychology. The results were plotted using the VOSviewer version 1.6.8. Statistical analyses were performed with the IBM SPSS, Version 25.0. Results A total of 1,239 manuscripts were identified, out of which 1,041 were selected. The average number of cited times per year per manuscript is 1.84 (interquartile range [IQR] 0-2.33). The average impact index was 47.8 (IQR 20-111.6). The median of total citations per manuscript was 3 (IQR 0-33.1), and the highest number of citations per manuscript was 484. Most publications focus on the psychological aspects of GD, and there is a significant amount of manuscripts related to social and anthropological issues. Most articles have a low level of scientific evidence. Conclusion There is a great amount of published literature on GD; however, there is a significant level of disagreement in many respects on this topic. Regarding surgical gender-affirmation, there is a lack of information supported by high level of evidence to uphold the emerging expansion of medical practices.

Objetivo La investigación sobre la disforia de género (DG) ha crecido en las últimas décadas con un interés creciente por comprender y caracterizar las relaciones causales entre factores psicológicos, genéticos, hormonales y socioculturales. La aceptación de esta condición como no patológica ha llevado a cambios significativos en la perspectiva general y su manejo a lo largo del tiempo. Nuestro objetivo es realizar un análisis bibliométrico para evaluar las tendencias de publicación y la calidad de evidencias relacionadas con la disforia de género. Métodos Se realizó una búsqueda sistemática y revisión crítica de la literatura entre enero de 1900 y diciembre de 2018 para hacer un análisis bibliométrico. Se utilizaron los criterios de los Ítems de Informe Preferido para Revisiones Sistemáticas y Metaanálisis (Preferred Reporting Items for Systematic Reviews and Meta-analysis, PRISMA, en inglés), y la investigación se realizó en las siguientes bases de datos: OVID, PubMed, EMBASE, Scopus, Web of Science y Google Scholar. Los términos de encabezados de temas médicos (medical subject headings, MeSh, en inglés) utilizados fueron: disforia de género; y cirugía y psicología. Los resultados se trazaron utilizando VOSviewer, versión 1.6.8. Los análisis estadísticos se realizaron con el IBM SPSS, versión 25.0. Resultados Se identificaron un total de 1.239 manuscritos, y se seleccionaron 1.041. El número promedio de citas por año por manuscrito fue de 1,84 (rango intercuartil [RIC]: 0­2,33). El índice de impacto promedio fue de 47,8 (RIC: 20­111,6). La mediana del total de citas por manuscrito fue de 3 (RIC: 0­33.1), y el mayor número de citas por manuscrito fue de 484. La mayoría de las publicaciones se centran en los aspectos psicológicos de la DG, y hay una cantidad significativa de manuscritos relacionados con temas sociales y antropológicos. La mayoría de los artículos tienen un bajo nivel de evidencia científica. Conclusión Existe una gran cantidad de literatura publicada sobre disforia de género; sin embargo, existe un nivel significativo de desacuerdo en muchos aspectos sobre este tema. Con respecto a la afirmación quirúrgica, hace falta información respaldada por un alto nivel de evidencia que argumente la expansión emergente de las prácticas médicas.

Creation of a Pilot Surgical Program for the Comprehensive Management of Patients with Congenital Urological Malformations / Creación de un programa quirúrgico piloto para el manejo integral de pacientes con malformaciones urológicas congénitas

Objectives Congenital malformations constitute the first cause of morbidity and mortality in childhood in Latin America. That is why, since 2001, a surveillance system for congenital malformations has been implemented in Bogota - Colombia. However, despite the increase in detection, an impact on treatment has not been achieved. The present study describes our experience with a novel social program focused on congenital urologic disorders. Methods The present manuscript is a retrospective observational study. We reviewed two national databases containing patients with congenital malformations. Patients were actively contacted to verify the status of the malformations. Children in whom the malformation was confirmed were offered a free consultation with a multidisciplinary group. After screening for surgical indications, patients were scheduled for surgery. Results Between November 2018 and December 2019, 60 patients were identified. In total 44, attended the consultation; the remaining did not attend due to financial or travel limitations. The most common condition assessed was hypospadias. In total, 29 patients underwent surgery. The total cost of care was of US$ 5,800. Conclusions Active search improves attention times and reduces the burden of disease. The limitations to be resolved include optimizing the transportation of patients and their families, which is a frequent limitation to access health care.

Objetivos Las malformaciones congénitas corresponden a la principal causa de morbimortalidad en la infancia en América Latina, motivo por el cual desde el 2001 se viene implementando un sistema de vigilancia epidemiológica de malformaciones congénitas en Bogotá, Colombia. Sin embargo, a pesar del aumento en la cobertura del reporte obligatorio, no se ha logrado un impacto sobre su tratamiento. Este estudio busca mostrar nuestra experiencia con un programa integral de pacientes con malformaciones urológicas congénitas. Métodos El presente es un estudio observacional retrospectivo. Los menores con malformaciones congénitas fueron identificados en dos bases de datos nacionales que incluyen pacientes con malformaciones congénitas. Los pacientes reportados fueron contactados telefónicamente para verificar el estado actual de la malformación. A aquellos niños en quienes se les confirmó la malformación, se les ofreció de manera gratuita una consulta con un grupo multidisciplinario. Una vez confirmadas las indicaciones quirúrgicas, fueron llevados a cirugía. Resultados Se identificaron 60 pacientes entre noviembre del 2018 y diciembre de 2019. De los pacientes identificados, 44 acudieron a consulta. Los demás no asistieron por limitaciones económicas. La principal condición valorada fue hipospadias. En total, 29 pacientes fueron llevados a cirugía. El costo total de la atención de estos pacientes fue de 22 millones de pesos colombianos. Conclusiones La búsqueda activa mejora los tiempos de atención y reduce la carga de la enfermedad. Una de las limitaciones aun por resolver es optimizar el transporte de los pacientes y sus familias, que resulta una limitación frecuente para el acceso a la salud.

Características de la relación interpersonal enfermera(o) - familia en UCI desde las necesidades relacionales de enfermería / Characteristics of the Nurse-Family Interpersonal Relationship in the ICU from the Relational Needs of Nursing

Objetivo: Diseñar y validar un instrumento de medición de la relación Interpersonal entre enfermera(o) y familia en la UCI desde las necesidades relacionales de la enfermera(o). Metodología: Estudio mixto (Cualitativo-Cuantitativo) exploratorio secuencial derivativo de 3 etapas. Primera etapa: Revisión integrativa de literatura (Fase 1) y diseño narrativo a través de análisis de contenido de entrevistas semiestructuradas a 21 profesionales de enfermería en UCI (Fase 2); Segunda etapa: Operacionalización de datos cualitativos a través de la estructuración de una red nomológica y redacción de ítems; Tercera etapa: Validez de contenido (con panel de evaluadores académicos) y estimación del índice de validez de contenido, validez facial con pilotajes cuantitativo/cualitativo, validez de constructo por medio de un análisis factorial exploratorio y confiabilidad a través del Alpha de Cronbach y test-retest. Para el panel de evaluadores se contó con la participación de 8 investigadores; en los pilotajes de validez facial participaron 20 enfermeros de UCI para cada pilotaje; para el análisis factorial exploratorio y estimación de Alpha de Cronbach participaron 218 enfermeros de UCI; y para el test-retest se tuvo la participación de 20 enfermeros en dos momentos de aplicación del instrumento con un intervalo de 7 días. Resultados y conclusiones: A partir de la revisión integrativa de literatura y del análisis de contenido de las entrevistas semiestructuradas se construyó una red nomológica que permitió el diseño de un instrumento de medición con 45 ítems. La validez de contenido permitió la reducción de 45 ítems a 23 ítems, con un IVC global de 0,9. En el pilotaje cualitativo de la validez facial se obtuvo un índice de V de Aiken superior a 0,9 para cada uno de los criterios evaluados y en el pilotaje cuantitativo se obtuvo un índice de correlación entre ítems originales y espejo superior a 0,6 además de un Alpha de Cronbach. parcial de 0,899. El análisis factorial permitió la extracción de 3 factores con explicación de más del 60% de la varianza total y los análisis de confiabilidad permitieron la obtención de un Alpha de Cronbach de 0,898 y un índice de correlación intraclase para el test-retest de 0,986. Lo anterior indica que el instrumento cuenta con validez de contenido, facial, constructo y confiabilidad suficientes para ser utilizado.

Objective: Design and validate an instrument for measuring the interpersonal relationship between nurses and families in the ICU from the nurse's relational needs. Methodology: Mixed (Qualitative-Quantitative) exploratory sequential derivative study of 3 stages. First stage: Integrative literature review (Phase 1) and narrative design through content analysis of semi-structured interviews with 21 nursing professionals in the ICU (Phase 2); Second stage: Operationalization of qualitative data through the structuring of a nomological network and item writing; Third stage: Content validity (with a panel of academic evaluators) and estimation of the content validity index, face validity with quantitative/qualitative tests, construct validity through an exploratory factor analysis and reliability through Cronbach's Alpha and test -retest For the panel of evaluators, 8 researchers participated; 20 ICU nurses participated in the facial validity tests for each test; For the exploratory factorial analysis and estimation of Cronbach's Alpha, 218 ICU patients participated; and for the test-retest, 20 nurses participated in two moments of application of the instrument with an interval of 7 days. Results and conclusions: Based on the integrative review of the literature and the content analysis of the semi-structured interviews, a nomological network was built that allowed the design of a measurement instrument with 45 items. The content validity allowed the reduction of 45 articles to 23 articles, with a global CVI of 0.9. In the qualitative test of facial validity, an Aiken's V index greater than 0.9 was obtained for each of the criteria evaluated, and in the quantitative test, a connection index between original elements and the mirror was obtained greater than 0.8. from a partial Cronbach's Alpha of 0.899. The factorial analysis allowed the extraction of 3 factors with an explanation of more than 60% of the total variance and the reliability analyzes allowed obtaining a Cronbach's Alpha of 0.898 and an intraclass achievement index for the test-retest of 0.986. This indicates that the instrument has content, facial, construct validity and sufficient reliability to be used.

Molecular study of sticky platelet syndrome using exorne sequencing / Estudio molecular del síndrome de plaqueta pegajosa mediante secuenciación del exoma

Abstract Introduction: Sticky platelet syndrome (SPS) is a prothrombotic condition characterized by increased platelet aggregation that causes arterial and venous thrombosis. Its diagnosis is reached by identifying increased aggregation using low concentrations of adenosine diphosphate and epinephrine in platelet aggregation tests. Objectives: To identify common mutations through exome sequencing in two patients from the same family diagnosed with SPS and, thus, contribute to the molecular study of this disease. Materials and methods: Descriptive study. In January 2018, exome sequencing was performed in a 10-year-old patient treated at Fundación HOMI (Bogotá D.C., Colombia), index case, and in one of his adult first-degree relatives, both with a history of thrombotic disease and diagnosed with SPS. Exome sequencing was performed at the Complexo Hospitalario Universitario de Santiago de Compostela (Spain) using the SureSelect Clinical Research Exome V2 software by Agilent. Results: Exome sequencing led to detect genetic variants in both cases when compared with the reference sequence. The following variant was identified in the two samples: a cytosine to thymine transition at position c.236 (NM_000174.4) of the glycoprotein (GP)Ib-IX-V complex platelet membrane receptor, which causes a heterozygous transition of the amino acid threonine to isoleucine (i.e., a transition from hydrophilic amino acid to a hydrophobic amino acid) at position p. 79 of the extracellular leucine-rich repeat domain of GPIba subunit of the (GP)Ib-IX complex, involving a conformational change of the main receptor of ligands IB alpha, which might result in platelet hyperaggregation and thrombosis. This variant has not been described in patients with SPS to date. Conclusion: The mutation identified in both samples could be related to SPS considering the importance of glycoprotein IX in platelet function.

Resumen Introducción. El síndrome de plaqueta pegajosa (SPP) es una condición protrombótica caracterizada por un incremento de la agregabilidad plaquetaria que causa trombosis arterial y venosa. Su diagnóstico se realiza al identificar el aumento de la agregabilidad utilizando bajas concentraciones de adenosín difosfato y epinefrina en pruebas de agregación plaquetaria. Objetivos. Identificar mutaciones comunes mediante secuenciación del exoma en dos pacientes de una misma familia con diagnóstico de SPP y, de esta forma, contribuir al estudio molecular de esta enfermedad. Materiales y métodos. Estudio descriptivo en el que se realizó secuenciación del exoma en un paciente de 10 años atendido en la Fundación HOMI (Bogotá, Colombia), caso índice, y en uno de sus familiares adultos en primer grado, ambos con antecedente de enfermedad trombótica y diagnosticados con SPP. La secuenciación del exoma se realizó en el Complexo Hospitalario Universitario de Santiago de Compostela (España) con el programa SureSelect Clinical Research Exome V2 de Agilent. Resultados. En la secuenciación del exoma se detectaron variantes genéticas en ambos casos en comparación con la secuencia de referencia. En las muestras de ambos pacientes se identificó una variante heterocigota consistente en una transición de citosina a timina en la posición c.236 (NM_000174.4) que provoca el cambio del aminoácido treonina por isoleucina en la posición p.79 del dominio extracelular repetitivo rico en leucina (subunidad GPIba del complejo de la glicoproteína Ib-IX-V) y que podría provocar el cambio conformacional del receptor principal del ligando Ib alfa, así como hiperagregación plaquetaria y trombosis. Esta variante no ha sido descrita previamente en pacientes con SPP. Conclusión. La mutación identificada en las muestras estudiadas podría estar relacionada con el SPP considerando la importancia de la glicoproteína IX en las funciones plaquetarias.

Tuberculosis musculoesquelética que imita neoplasia de tejidos blandos: A propósito de dos casos / Musculoskeletal Tuberculosis mimicking soft tissue neoplasms: report of two cases

Resumen La tuberculosis (TB) es una de las enfermedades infecciosas con mayor carga de morbimortalidad a nivel mundial,la presentación pulmonar es la forma más común, sin embargo, las manifestaciones extrapulmonares, especialmente las osteoarticulares, pueden ser difíciles de diagnosticar debido a sus síntomas inespecíficos sugestivos de otras entidades como neoplasias o enfermedades infiltrativas, lo que hace de su diagnóstico un reto clínico. Está enfermedad esta asociada a múltiples factores de riesgo como inmunosupresión, contacto cercano con pacientes con tuberculosis, hacinamiento, residir en zona endémica, entre otros. A continuación, se presentan dos casos de pacientes pediátricos sin compromiso inmune que cursaron con cuadros sugestivos de neoplasias musculoesqueleticas, con hallazgos imagenológicos congruentes, pero con estudios microbiológicos positivos para TB.

Abstract Tuberculosis (TB) is one of the infectious diseases with the highest burden of morbidity and mortality worldwide. Pulmonary presentation is the most common, however, extrapulmonary manifestations, especially osteoarticular, can be difficult to diagnose due to their nonspecific symptoms suggestive of other entities such as neoplasms or infiltrative diseases. Tuberculosis is also associated with multiple risk factors, especially immunosuppression, and among others, household contact with patients with tuberculosis or residing in an endemic area. We present two pediatric patients without immunecompromise, with clinical history suggestive of musculoskeletal neoplasms, with congruent imaging findings, but with positive microbiological studies for TB.

Validación de la escala "Valoración de relaciones interpersonales enfermera-familia en UCI-VRIEF-UCI" / Validação da escala "Avaliação das relações interpessoais enfermeira-família na UTI-VRIEF-UCI" / Validation of the scale "Assessment of nurse-family interpersonal relationships in ICU-VRIEF-UCI"

Objetivo: determinar las propiedades psicométricas del instrumento "Valoración de relaciones interpersonales enfermera-familia en Unidad de Cuidados Intensivos (VriEF-Uci)". Materiales y método: estudio de tipo instrumental de cinco fases: i) validez de contenido a través de juicio de expertos, ii) validez de constructo implementando análisis facto-rial exploratorio, iii) validez de criterio analizando correlación con instrumento compatible teóricamente, iv) confiabilidad con el índice de correlación por mitades y v) análisis de dificultad/consistencia a través del modelo de Rasch. La muestra del pilotaje fue de 430 familiares de pacientes adultos internados en uci de dos hospitales universitarios. La muestra para el juicio de expertos fue de 7 expertos. Resultados:el VriEF-Uci mostró un índice de concordancia global de 0,96; la validez de constructo determinó que el instrumento es unidimensional con una varianza explicada de 68,6 % para un factor; la validez de criterio evidenció un índice de correlación con el criterio externo de 0,876; la confiabilidad del instrumento es determinada con un índice de confiabilidad por mitades de 0,90. El modelo de Rasch evidenció adecuados niveles de dificultad, lo que se traduce en una alta probabilidad de que los participantes desarrollen adecuadamente el instrumento (residuales cuadráticos medios de 0,99 y de ajuste estadístico estandarizado de -0,1 para ajuste inter-no, y residuales cuadráticos medios de 1,01 y de ajuste estadístico estandarizado de 0,1 para ajuste externo). Conclusiones: las propiedades psicométricas del instrumento VriEF-Uci son adecuadas para la valoración de las relaciones interpersonales entre enfermera y familia en la unidad de cuidados intensivos.

Objetivo: determinar as propriedades psicométricas do instrumento "Avaliação das relações interpessoais enfermeira-família em Unidade de Terapia Intensiva (VriEF-UTi)". Materiais e método: estudo instrumental em cinco fases: i) validade de conteúdo por meio de julgamento de especialistas; ii) validade de construto por meio da implementação de análise fatorial exploratória; iii) validade de critério a partir da análise da correlação com um instrumento teoricamente compatível; iv) confiabilidade com o índice de correlação pela metade e v) análise de dificuldade/consistência por meio do modelo Rasch. A amostrapiloto foi composta por 430 familiares de pacientes adultos internados em UTi de dois hospitais universitários. A amostra para o julgamento do especialista foi de sete especialistas. Resultados: o VriEF-Uci apresentou índice de concordância global de 0,96; a validade de construto determinou que o instrumento é unidimensional com variância explicada de 68,6 % para um fator; a validade de critério evidenciou índice de correlação com o critério externo de 0,876; a confiabilidade do instrumento é determinada com um índice de confiabilidade pela metade de 0,90. O modelo Rasch apresentou níveis de dificuldade adequados, o que se traduz em uma alta probabilidade de os participan-tes desenvolverem adequadamente o instrumento (resíduos quadrados médios de 0,99 e ajuste estatístico padronizado de -0,1 para ajuste inter-no e resíduos quadrados médios de 1,01 e ajuste estatístico padronizado de 0,1 para ajuste externo). Conclusões: as propriedades psicométricas do instrumento Vri EF-Uci são adequadas para avaliar as relações interpessoais entre enfermeiro e família em unidade de terapia intensiva.

Objective: To determine the psychometric properties of the instru-ment "Assessment of nurse-family interpersonal relationships in the Intensive Care Unit (VriEF-icU). "Materiales and method:Five-phase instrumental study: i) content validity through expert judgment, ii) construct validity by implementing exploratory factor analysis, iii) criterion validity analyzing correlation with a theoretically compatible instrument, iv) reliability with the reliability index by halves, and v) analysis of difficulty/consistency through the Rasch model. The pilot sample consisted of 430 relatives of adult patients admitted to the icU of two university hospitals. The sample for the expert judgment was 7 specialists. Results: The VriEF-Uci showed a global concordance index of 0.96; construct validity determined that the instrument is one-dimensional with an explained variance of 68.6% for one factor; criterion validity evidenced a correlation index with the external criterion of 0.876; the reliability of the instrument is determined with a reliability index by halves of 0.90. The Rasch model showed adequate levels of difficulty, which translates into a high probability that participants adequately develop the instrument (mean square residuals of 0.99 and standardized statistical fit of -0.1 for internal fit, and mean square residuals of 1.01 and standardized statistical fit of 0.1 for external fit). Conclusions:The psychometric properties of the VriEF-Uci instrument are suitable for assessing the interpersonal relationships between nurse and family in the intensive care unit.

Successful engraftment of haploidentical stem cell transplant with post-transplantation cyclophosphamide in a patient with adenosine deaminase deficiency.

BACKGROUND: SCID are characterized by an imbalance in cellular and humoral immunity. Enzyme ADA deficiency represents from 10% to 15% of the SCID. This generates diminished maturation of the cell precursors. Treatments include enzyme replacement therapy, allogenic, or autologous HSCT with gene therapy, with HSCT being of choice when an identical HLA donor exists. CASE REPORT: Male patient, without relevant family antecedents or consanguinity. The patient had multiple infections during the first months of life, evidencing low immunoglobulin levels, with absence of T and B lymphocytes, and natural killer cells. Severe combined immunodeficiencies are considered due to ADA deficiency; management was begun and is derived to our hospital. Admission at 8 months of life, with chronic malnutrition and psychomotor retardation. The HLA studies were conducted without finding an identical donor, taken to HSCT with haploidentical donor. Conditioning regimen with cyclophosphamide, fludarabine, melphalan, and thymoglobulin. This patient received prophylaxis for graft-versus-host disease with cyclophosphamide, cyclosporine, and methotrexate. A 22 months post-transplant, the patient was without immunosuppressants or immunoglobulin, without evidence of graft-versus-host disease or new infections. CONCLUSIONS: The ADA deficiency is an infrequent pathology that can be potentially fatal if adequate treatment is not started. Haploidentical HSCT, using post-transplantation cyclophosphamide, emerges as a viable option with which good results can be achieved and improve the quality of life in patients with no other therapeutic alternatives.

Experiencia con sacubitril/valsartán en una clínica de falla cardiaca / Experience with sacubitril/valsartan in a heart failure clinic

Resumen Objetivo: describir las características y el comportamiento clínico de pacientes tratados con sacubitril/valsartán en una clínica de falla cardiaca de un hospital de alta complejidad. Métodos: se analizaron en retrospectiva 56 pacientes en manejo con sacubitril/valsartán, entre enero de 2017 y mayo de 2018. A los tres meses de inicio del tratamiento, 87% de los pacientes fueron evaluados. Se determinaron cambios en clase funcional, fracción de eyección ventricular izquierda (FEVI) y presión arterial sistólica y diastólica. Se registraron reingresos hospitalarios por falla cardiaca, mortalidad cardiovascular y eventos adversos asociados a la medicación. Resultados: la edad promedio fue 71,3 años; 51,7% correspondían al sexo masculino, 73% tenía etiología isquémica, 35% clase funcional NYHA II y 60% NYHA III antes de iniciar el tratamiento con sacubitril/valsartán. Al finalizar el seguimiento, 57% mejoró su clase funcional y 81,7% se encontraba en clase funcional NYHA II (IC95%, -0,52 a-0,18; p=0,0002). Hubo mejoría significativa en los valores de FEVI respecto a los basales (IC95%, 4,27 a 11,86; p=0,0002). Se observó una disminución significativa de la presión arterial tanto sistólica como diastólica (p<0,01). Un paciente presentó muerte súbita (2%) y uno hospitalización por falla cardiaca (2%). Ningún paciente descontinuó la terapia por efectos adversos. Conclusión: sacubitril/valsartán es una terapia útil en pacientes con falla cardiaca sintomática y FEVI reducida. La población evaluada tenía un perfil demográfico y clínico semejante al del ensayo clínico PARADIGM-HF, lo cual sugiere que los desenlaces clínicos son similares en la población colombiana.

Abstract Objective: The aim of this study is to describe the characteristics and clinical behaviour of patients treated with sacubitril/valsartan in a heart failure clinic of a high complexity hospital. Methods: A retrospective analysis was performed on a total of 56 patients on treatment with sacubitril/valsartan, between January 2017 and May 2018. At three months from the start of the treatment, 87% of the patients were evaluated. Changes were observed in functional class, left ventricular ejection fraction (LVEF), and systolic and diastolic arterial pressure. A record was made of hospital re-admissions due to heart failure, cardiovascular mortality, and adverse events associated with the medication. Results: The mean age of the patients was 71.3 years, of which 51.7% were male. An ischaemic origin was found in 73%. NYHA II and NYHA III functional class was observed 35% and 60%, respectively, before starting the treatment with sacubitril/valsartan. At the end of follow-up, 57% improved their functional class, and 81.7% were found to be in NYHA II functional class (95% CI; -0.52 to -0.18:=0.0002). There was a significant improvement in the LVEF values compared to baseline (95% CI; 4.27 to 11.86; P=0.0002). A significant decrease was observed in both systolic and diastolic blood pressure (P<0.01). There was sudden death in one (2%) patient and one (2%) patient admitted due to heart failure. None of the patients stopped the therapy due to secondary effects. Conclusion: Sacubitril/valsartan is a useful therapy in patients with symptomatic heart failure and a decreased LVEF. The population evaluated had a demographic and similar clinical signs and symptoms to the PARADIGM-HF clinical trial, which suggests that the clinical outcomes are similar in the Colombian population.

Follow up of Patients with Eagle-Barett (Prune Belly) Syndrome Treated with Single-Stage Abdominoplasty and Total Genitourinary Tract Reconstruction / Seguimiento de pacientes con síndrome de Eagle-Barret (prune belly) tratados con abdominoplastia en un solo tiempo y reconstrucción total del tracto genitourinario

Introduction The Prune Belly Syndrome (PBS) is the deficiency or congenital hypoplasia of the abdominal muscles accompanied with disorders of the urinary tract. The surgical treatment for the uropathy of the PBS seeks to correct the anatomical defects that induce damage to the urinary tract, including the improvement of the bladder emptying. The correction of the abdominal wall defect must be considered as an important part of the treatment. Objective To describe of the most relevant clinic characteristics and outcomes of a group of eight patients with PBS managed with abdominoplasty and reconstructive urologic surgery. Methods Retrospective review of the medical charts of patients with PBS at Hospital Universitario San Ignacio, Hospital Militar Central of Bogotá, Clinica Infantil Colsubsidio and Fundación Oftalmológica Ardila Lulle of Bucaramanga, (Colombia) that were managed with reconstructive surgery of the urinary tract and Monfort technique abdominoplasty (between 2006 and 2016) by one of the authors (JPN). The evaluated variables included: phenotypic appearance, renal function, bowel movements, and urinary tract infection (UTI) episodes. These variables as well as the abdominal wall aspect, were evaluated postoperatively. Results There were 11 patients identified with PBS between 2006 and 2016. Eight (8) of them underwent reconstructive urologic surgery, orchidopexy and Monfort technique abdominoplasty. After the procedures, none of the patients presented deterioration of the renal function, and they reported a better quality of the stools according to the Bristol scale; there were also less episodes of UTI. The phenotypic aspect of the abdominal wall was qualified as satisfactory in all cases. Conclusions Reconstructive urologic surgery and abdominoplasty in patients with PBS is an excellent choice of management that reduces the number of UTIs, improves bowel movements according to the Bristol scale, and preserves the renal function. This management approach also improves the phenotypic aspect of the abdominal wall. All of this leads to higher survival rate and better quality of life.

Introducción El Síndrome de Prune Belly (SPB) es la deficiencia o hipoplasia congénita de los músculos abdominales acompañada de desórdenes del tracto genitourinario. El manejo quirúrgico de la uropatía del SPB busca corregir los defectos anatómicos que inducen daño al tracto urinario, incluyendo la mejora del vaciamiento vesical. La corrección del defecto de la pared abdominal debe considerarse como una parte importante del manejo. Objetivos Describir las características clínicas más relevantes y el desenlace de un grupo de 8 pacientes con SPB manejados con abdominoplastia y cirugía urológica reconstructiva. Materiales y Métodos Revisión retrospectiva de las historias clínicas de los pacientes con SPB del Hospital Universitario San Ignacio, Hospital Militar Central de Bogotá, Clínica Infantil Colsubsidio, y Fundación Oftalmológica Carlos Ardila Lulle de Bucaramanga (Colombia), manejados con cirugía reconstructiva de las vías urinarias y abdominoplastia tipo Monfort entre los años 2008 y 2016 por uno de los autores (JPN). Las variables incluidas fueron: aspecto fenotípico, función renal, hábito intestinal y características de las deposiciones, y episodios de infección urinaria. El desenlace de estas variables y el aspecto de la pared abdominal fueron evaluados en el postoperatorio. Resultados se identificaron 11 pacientes con SPB entre 2006 y 2016. Ocho (8) fueron sometidos a cirugía reconstructiva de las vías urinarias, orquidopexia y abdominoplastia tipo Monfort. Después de los procedimientos, ninguno de los pacientes presentó deterioro de la función renal; los pacientes refieren mejor calidad de las deposiciones según la escala de Bristol; se presentaron menos episodios de infección de vías urinarias. El aspecto fenotípico fue calificado como satisfactorio en todos los casos. Conclusiones La cirugía urológica reconstructiva acompañada de abdominoplastia en pacientes con SPB es una excelente forma de manejo que reduce el número de infecciones urinarias, mejora la calidad del hábito intestinal según la escala de Bristol, y conserva la función renal. Este manejo mejora además el aspecto fenotípico de la pared abdominal. Todo esto lleva a una mayor sobrevida y mejor calidad de vida.

Hemorragia obstétrica secundaria a placenta previa y leiomioma retroplacentario gigante cervical. Reporte de un caso / Obstetric hemorrhage secondary to placenta previa and giant retroplacental leiomyoma cervical. Case report

Resumen ANTECEDENTES: Los leiomiomas y el embarazo se relacionan con complicaciones impredecibles; incluso su incidencia se ha incrementado, debido al retraso de la primera gestación y conforme avanza la edad de la madre, su asociación con hemorragia posparto y alto riesgo de histerectomía obstétrica aumentan la morbilidad y mortalidad. CASO CLÍNICO: Paciente de 30 años, sin control prenatal y embarazo clínicamente de término, que acudió a urgencias por dolor obstétrico y sangrado transvaginal. En la exploración física reveló el primer periodo de trabajo de parto, 9 cm de dilatación, altura de presentación -4 según los planos De Lee; se palpó el borde placentario a nivel cervical, acompañado de sangrado transvaginal moderado, rojo rutilante. Se activó el código mater y se preparó para cesárea, por placenta previa sangrante. Durante la intervención quirúrgica se comprobó el diagnóstico y la tumoración, que inició en la cara posterior, en el segmento uterino inferior, y finalizó en la zona cervical, con múltiples vasos de neoformación sangrantes y atonía uterina secundaria, circunstancias que condicionaron hemorragia importante. Se efectuó la histerectomía obstétrica y nació una niña de 3145 g, talla 51 cm, Capurro de 41 semanas de gestación y Apgar 7/9. La pérdida hemática total fue de 2000 cc; permaneció cuatro días en estancia hospitalaria y la madre y su hijo se dieron de alta del hospital sin complicaciones. CONCLUSIÓN: La relación entre miomatosis uterina y embarazo incrementa el riesgo de complicaciones maternas. El seguimiento ecográfico y el control prenatal determinan su repercusión durante la evolución del embarazo y el parto. En estos casos es importante considerar el tratamiento conservador.

Abstract BACKGROUND: Leiomyomas and gestation are an association with unpredictable complications, in which their incidence is increased by the delay of the first gestation and as maternal age advances, its relationship with postpartum hemorrhage and high risk of obstetric hysterectomy increases maternal morbidity and mortality proportionally. CLINICAL CASE: A 30-year-old patient without prenatal care and a clinically terminal pregnancy, who attended the emergency department due to obstetric pain and transvaginal bleeding. Physical examination revealed first labor, 9cm of dilation, height of presentation -4 according to plans From Lee, placental edge was palpated at the cervical level, accompanied by moderate transvaginal bleeding, bright red, mater code is activated and prepared for cesarean section, for bleeding placenta, during the surgical event, corroborates diagnosis and tumor that starts on the face posterior, lower uterine segment and ends at the cervical level, with multiple vessels of bleeding neoformation and secondary uterine atony, causing significant hemorrhage, obstetric hysterectomy was performed, a new born with sex female woman with a weight of 3145 g, size 51cm, Capurro 41 weeks of gestation was obtained, Apgar 7/9, the total blood loss was 2000 cc, 4 days of inpatient hospital stay, the binomial without complications was graduated. CONCLUSION: The association of uterine myomatosis and pregnancy increase the risk of maternal complications, adequate ultrasound monitoring and prenatal control, determine the repercussion during the evolution of pregnancy and childbirth, conservative management should always be considered.