Preeclampsia is a pregnancy-specific hypertensive disorder associated with maternal and perinatal morbidity and mortality and can increase the risk of vascular diseases after pregnancy. However, a timely and unequivocal diagnosis in the first weeks allows access to appropriate medical follow-up. In this exploratory approach, we aim to evaluate the analytical potential of MALDI-TOF spectral fingerprints combined with machine learning algorithms for discriminating serum samples from patients with preeclampsia from those with normotensive pregnancies. The dataset comprised 164 spectra of serum samples from 67 women with preeclampsia and 97 negative controls, which were processed using the Filter-Assisted Sample Preparation (FASP) protocol and analyzed by mass spectrometry. Spectral data analysis was subjected to a machine learning algorithm that demonstrated high performance in classifying cases and controls, with an overall accuracy of 88
Introducción: A nivel mundial, la pandemia de COVID-19 generalmente se basa en casos reportados, pero una visión más integral surge de la identificación de anticuerpos. Un estudio nacional de 2020 en Bucaramanga reveló diversos niveles de exposición al SARS-CoV-2 entre grupos ocupacionales, enfatizando la vulnerabilidad de los trabajadores informales. Objetivo: Este estudio estima la seroprevalencia ajustada y la seroincidencia de anticuerpos contra el SARS-CoV-2 (IgM e IgG) entre grupos ocupacionales del Área Metropolitana de Bucaramanga (Colombia) en tres momentos diferentes de la pandemia. Materiales y Métodos: El estudio de cohorte prospectivo, realizado de septiembre de 2020 a octubre de 2021, comprendió tres rondas. Cada ronda recopiló datos demográficos, historial médico, exposición o diagnóstico de COVID y estado de vacunación de empleados de varios grupos ocupacionales en Bucaramanga y su área metropolitana. Se evaluaron las inmunoglobulinas G y M en cada ronda, y se calculó la seroprevalencia ajustada. Resultados: 1.013 sujetos participaron en todas las rondas. Los trabajadores de la salud representaron más del 50% de todos los participantes. El 93,6% (n = 948) de los participantes estaban vacunados para la tercera ronda. La seroprevalencia ajustada aumentó progresivamente [Ronda 1: 15,9% (IC del 95% 13,7–18,2); Ronda 2: 18,4% (IC del 95% 16,0–20,7); Ronda 3: 29,2% (IC del 95% 26,4–31,9)]. La seroincidencia para IgM/IgG positivo para la tercera ronda fue del 26,2% (IC del 95% 20,7–31,6). Discusión: Se destaca el aumento progresivo de la seroprevalencia ajustada de anticuerpos contra el SARS-CoV-2 entre los trabajadores del Área Metropolitana de Bucaramanga, con una notable prevalencia entre los trabajadores de la salud. Conclusiones: El estudio destaca la prevalencia de infecciones por SARS-CoV-2 entre los trabajadores del Área Metropolitana de Bucaramanga, enfatizando el papel de la inmunidad híbrida sobre la vacunación en las tasas de infección. El monitoreo continuo y las intervenciones adaptadas son vitales para proteger a las poblaciones vulnerables.
Introduction: Folic acid deficiency during pregnancy poses a significant health risk, affecting both maternal and fetal health, especially in low- and middle-income countries where access to and adherence to prenatal supplements are limited. The objective of this study was to determine folic acid levels in serum samples from healthy third-trimester pregnant women attending health institutions for delivery care in Colombia. Methods: A cross-sectional analysis of the GenPE biobank was conducted on primigravid women with full-term pregnancies recruited between 2000 and 2012. Serum samples were collected at delivery, stored at -80 degrees C, and analyzed for folic acid using a chemiluminescent assay. Levels below 4 ng/mL were considered low by WHO standards. Results: Among 1,299 pregnant women from seven Colombian cities, mostly of mixed ethnicity and low socioeconomic status, only 19% continued folic acid supplementation into the third trimester. Median folate levels were 5.8 ng/mL, with no significant difference between supplement users and non-users. Cartagena showed the lowest levels. Folic acid correlated positively with HDL and inversely with homocysteine. Notably, 18.5% of participants presented with critically low levels (<3 ng/mL), indicating potential metabolic and public health risks.Discussion High folic acid deficiency in healthy pregnant women indicates supplementation failures. However, relevant metabolic correlations are limited by the cross-sectional design and the absence of detailed information on dosage and duration. Conclusion: These findings revealed a high prevalence of folic acid deficiency among healthy pregnant Colombian women, highlighting a persistent public health concern that aligns with global trends in similar economic contexts and emphasizing the need for strengthened, context-specific intervention strategies.
Introduction:Globally, the COVID-19 pandemic typically relied on reported cases, but a more comprehensive view emerges from antibody identification. A 2020 national study in Bucaramanga revealed diverse SARS-CoV-2 exposure levels among occupational groups, emphasizing the vulnerability of informal workers. Objective:This study estimates adjusted seroprevalence and seroincidence of SARS-CoV-2 antibodies (IgM and IgG) among occupational groups in the Bucaramanga Metropolitan Area (Colombia) in three different moments of the pandemic. Materials and Methods:The prospective cohort study was conducted from September 2020 to October 2021, comprising three rounds. Each round gathered demographic data, medical history, COVID exposure or diagnosis, and vaccination status from workers across various occupational groups in Bucaramanga and its metropolitan area. Immunoglobulins G and M were assessed in each round, and adjusted seroprevalence was calculated. Results:A total of 1,013 subjects participated in all rounds. Healthcare workers accounted for more than 50% of all participants. By Round 3, 93.6% (n = 948) of participants had received the vaccination. Adjusted seroprevalence increased progressively (Round 1: 15.9% [95%CI 13.7-18.2]; Round 2: 18.4% [95%CI 16.0-20.7]; Round 3: 29.2% [95%CI 26.4-31.9]). Seroincidence for IgM/IgG positivity by Round 3 was 26.2% (95%CI 20.7-31.6). Discussion:The progressive increase in adjusted SARS-CoV-2 seroprevalence among workers in the Metropolitan Area of Bucaramanga is highlighted, with a notable prevalence among healthcare workers. Conclusion:The study underscores the prevalence of SARS-CoV-2 infection among workers in the Bucaramanga Metropolitan Area, emphasizing the role of hybrid immunity following vaccination in infection rates. Continued monitoring and tailored interventions are vital for protecting vulnerable populations.
Introduction: The COVID-19 pandemic led to a high prevalence of anxiety and depression among healthcare personnel. Objective: To assess the prevalence and independent risk factors associated with anxiety and depression symptoms among healthcare staff working in Intensive Care Units (ICUs) during the COVID-19 pandemic in Bucaramanga and its metropolitan area. Materials and Methods: This was an analytical cross-sectional study. Anxiety and depression were measured using the Hopkins Symptom Checklist-25 (HSCL-25). Bivariate and multivariate analyses were conducted using linear regressions to investigate associated factors. Results: A total of 288 people were included in the study. The prevalence of anxiety and depression symptoms was 8.34% (95% CI: 5.41-12.14%). In the bivariate analysis, six factors were associated with depression and anxiety symptoms; however, only three remained in the multivariate analysis: female sex (β=0.085, 95% CI; 0.019 - 0.151), experiencing COVID-19 symptoms in the past 14 days (β= 0.115, 95% CI: 0.024 - 0.205), and having worked in general ICUs and COVID-19 ICUs (β =0.009, 95% CI: 0.025 - 0.173). Discussion: The prevalence of anxiety and depression symptoms was considerably lower than reported in the scientific literature. Conclusions: In the studied population, although the prevalence of depression and anxiety symptoms was low, three independent factors were found to be statistically associated with the presence of these mental symptoms.
Purpose Sedentary living and respiratory/cardiovascular diseases affect respiratory and peripheral muscles. Muscle training can prevent, improve and reverse these changes. Their research question suggests that precise nutraceutical administration can enhance antioxidant capacity and muscle function. This sudy aims to evaluate the impacto of an innovative nutraceutical on blood biomarkers such as essential aminoacids, antioxidants, lipid profile, and REDOX status in healthy individuals, stable Chronic Obstructive Pulmonary Disease (COPD) patients, and mechanically ventilated patients. Design/methodology/approach The authors designed a nutraceutical to assess its effects on serum amino acids, lipid profile, vitamins, minerals and reduction-oxidation function. Conducted at a high-complexity care hospital, a study with a non-equivalent group design compared pre- and post-treatment administration. Findings The 29 participants were categorized into healthy individuals ( n = 10), chronic obstructive pulmonary disease (COPD) patients ( n = 10) and COPD patients receiving mechanical ventilation in an intensive care unit (ICU, n = 9) due to exacerbation. Analyzing serum values of selected markers and components before and after nutraceutical intake revealed significant differences. Oxygen radical absorption capacity units significantly increased ( p = 0.0051) in healthy individuals. Isoleucine, valine, phosphorus, magnesium and calcium levels significantly increased in the healthy group. Research limitations/implications The small sample size and short duration limit the generalizability of results. The non-equivalent group design and lack of randomization may introduce bias, affecting reliability. Future research should involve larger, randomized controlled trials to confirm HIC1® benefits. Additionally, exploring long-term effects and optimal dosing in various populations, including different COPD stages and other chronic conditions, will provide more comprehensive insights. Despite these limitations, the study suggests promising implications for enhancing muscle function and antioxidant capacity through precise nutraceutical administration. Practical implications The administration of HIC1® demonstrates potential for improving antioxidant capacity and muscle function, particularly in sedentary individuals and those with respiratory or cardiovascular diseases. This study’s findings suggest that even short-term use of HIC1® can lead to significant increases in serum amino acids and other vital nutrients. Health practitioners should consider incorporating nutraceuticals like HIC1® into treatment plans for COPD patients and those requiring mechanical ventilation. Future research and clinical practice should explore optimal dosing and long-term benefits, potentially improving patient outcomes in chronic disease management. Social implications The use of nutraceuticals like HIC1® could have a significant impact on public health, especially for vulnerable populations such as the elderly and those with chronic illnesses. Improving muscle function and antioxidant capacity can reduce dependence on intensive care, decrease the economic burden on healthcare systems and enhance patients’ quality of life. Additionally, access to effective nutraceutical treatments could democratize healthcare, providing an affordable complementary option for preventing and managing muscle and respiratory diseases, promoting healthy and active aging in society. Originality/value This study is pioneering in evaluating the effects of a specifically designed nutraceutical, HIC1®, on both healthy individuals and those with chronic respiratory conditions. By focusing on precise nutraceutical administration, it addresses the gap in research on non-pharmaceutical interventions for enhancing muscle function and antioxidant capacity. The findings provide valuable insights into the potential of HIC1® to improve clinical outcomes in COPD patients and those undergoing intensive care, offering a novel, natural and potentially cost-effective approach to complement traditional treatments and support overall health and well-being.
The emergence of SARS-CoV-2, the virus causing COVID-19, has resulted in a pandemic that has disrupted all sectors of society. Less than a year after the sequencing of the virus’s genome, emergency use authorization for the BNT162b2 vaccine was requested. The aim of this study was to evaluate the response to the BNT162b2-mRNA COVID-19 vaccine in frontline workers from two hospitals in Colombia. Nasopharyngeal swabs were collected for the molecular detection of SARS-CoV-2 using real-time PCR, and blood samples were taken to assess seroconversion using qualitative and quantitative IgA, IgG, and IgM test kits. The study was conducted at a high-complexity healthcare institution in Bucaramanga, Colombia. 245 people were included in the first round and 129 in the second. SARS-CoV-2 molecular tests were conducted by RT-qPCR, and peripheral blood samples were collected to measure IgG, IgM, and IgA. The main outcome was to establish natural infection and the antibody response induced by the vaccine. The entire population was tested at two fixed times with RT-PCR tests and antibody level measurements approximately 4 and 8 months after receiving the second vaccine dose. 62 (25.3%) and 35 (14.3%) participants had a history of positive PCR in the first and second rounds, respectively. All positive cases showed elevated levels of all immunoglobulins, especially IgG. The average concentrations of IgA, IgM, and IgG at 90 days were 1149.5 U/mL (95% CI 828.2-1470.9); 320.3 U/mL (95% CI 218.4-422.3); and 9277.3 U/mL (95% CI 8989.2-9565.3). Frontline healthcare workers showed an adequate response to the BNT162b2 mRNA vaccine.
The role of genetic ancestry (GA) in hypertensive pregnancy disorders in Latin-American women is poorly understood. Using data from a multi-center case-control study (GenPE) of preeclampsia (PE) in young Colombian women (median age = 19) of predominantly low socioeconomic status (2364 controls and 1811 cases), who identify as Afro-Caribbean (AFR-C), White Hispanic (HISP), Amerindian, and Mixed ethnicity, we evaluated associations between 1) reported ethnicity, and 2) empirically estimated GA, with PE . We performed 3-way admixture mapping using European (EUR), African (AFR) and Amerindian (AMR) ancestry references from the Human Genome Diversity Project using the FLARE software to estimate local and global ancestry in GenPE samples. Statistical significance threshold, for three-way local ancestry analyses, was empirically estimated using STEAM (P = 3.45x10 -6 ). In multivariable logistic regression models for reported ethnicity, AFR-C were 33% more likely to have PE (OR = 1.33; P = 0.02) than HISP women . In models evaluating empirically estimated global GA , AFR was positively associated (OR per 10% increase in ancestry = 1.05; P = 0.002) , while AMR (OR = 0.91; P = 0.035) and EUR (OR = 0.95; P = 0.009) were inversely associated with PE. Additionally, adjusting for reported ethnicity in models evaluating global GA and PE changed estimates only marginally for AFR (OR = 1.04; P = 0.025) and EUR (OR = 0.92; P = 0.009). Evaluation of GA and PE in a subset of women who reported AFR-C ethnicity , showed stronger estimates for all global ancestries: AFR (OR = 1.11; P = 0.013, EUR (OR = 0.82; P = 0.026), and AMR (OR = 0.83; P = 0.01). Association analyses with AFR local GA identified three loci associated with PE . The top locus at chromosome 11, rs2021740 (a smooth muscle enhancer in OTOG1 and near MYOD1 ), each additional allele of AFR origin associated with 27% increased odds of PE (OR = 1.27; P = 1.13x10 -7 ). The A-allele for this variant is found in greater frequency in AFR reference populations (22%) than in EUR (5%). Subgroup analyses with HELLP syndrome (279 cases and 2364 controls) shows intriguingly opposite findings with increased risk for global AMR and EUR ancestry and decreased risk for AFR ancestry. Using a genetically diverse hispanic population , we show genetic ancestry is associated with PE independent of reported ethnicity and further demonstrate the power of admixture mapping to identify a candidate locus for PE .
INTRODUCTION:The prevalence of the population with a history of an occlusive cardiovascular event has been increasing in recent years, which means that a large number of patients will have a higher risk of presenting a fatal recurrence. The aim is to determine variables associated with time-to-recurrent cardiovascular events and analyze how changes in low-density lipoprotein cholesterol (LDL-C) levels during follow-up may be associated with this time-to-event. MATERIALS AND METHODS:This is a prospective observational cohort study of 727 adults with a history of at least one occlusive cardiovascular event recruited at a referral hospital in northeastern Colombia. Data from a follow-up period of a maximum of 33 months (median 26 months) (one death) were used to define how clinical and sociodemographic variables impact the recurrence of major adverse cardiovascular events (MACE). Analyses were performed based on proportional hazard models and time-dependent hazard models. RESULTS:Upon enrollment, 215 (30%) of the participants reported experiencing their most recent cardiovascular event within the preceding year. After two years, the recurrence rate was 12.38% (90/727). The risk of recurrence before two years was 3.9% (95% CI 2.7-5.6). In the multiple models, the presence of severe depression gives a Hazard Ratio of 8.25 (95% CI 2.98-22.86) and LDL ≥120 md/dl Hazard Ratio of 2.12 (95% CI 1.2 -3.9). It was found that LDL >120 mg/dl maintained over time increases the chances of recurrence by 1.7% (Hazard Ratio: 1.017, 95% CI 0.008-0.025). CONCLUSIONS:The present study allows us to identify a profile of patients who should be treated promptly in an interdisciplinary manner to avoid recurrences of coronary events.
Background In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant (ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted.Results We ascertained the frequency of P/LP germline variants in BRCA2 (2.5%), ATM (1.25%), BRCA1 (0.75%), PALB2 (0.50%), CHEK2 (0.50%), BARD1 (0.25%), and RAD51D (0.25%) genes in the population of study. P/LP variants account for 6% of the total population analyzed. No LGRs were detected in our study. We identified 1.75% of recurrent variants in BRCA2 and ATM genes. One of them corresponds to the ATM c.5496 + 2_5496 + 5delTAAG. Functional validation of this variant demonstrated a splicing alteration probably modifying the Pincer domain and subsequent protein structure.Conclusion This study described for the first time the genomic profile of ten risk genes in Colombian women with unselected BC. Our findings underscore the significance of population-based research, advocating the consideration of molecular testing in all women with cancer.
Introduction. Monoclonal B-cell lymphocytosis generally precedes chronic lymphocytic leukemia, affecting about 12% of the healthy adult population. This frequency increases in relatives of patients with chronic B-cell lymphoproliferative disorders.Objective. To determine the frequency of Monoclonal B-cell lymphocytosis in relatives of patients with chronic B-cell lymphoproliferative disorders, their immunophenotypic/cytogenetic characteristics, a possible relationship with infectious agents, and short-term follow-up in the Colombian population.Materials and methods. Fifty healthy adults with a family history of chronic B-cell lymphoproliferative disorders were studied using multiparametric flow cytometry, cytogenetic/serological testing, lifestyle survey, and 2-year follow-up.Results. The frequency of Monoclonal B-cell lymphocytosis found was 8%, with a predominance of female gender and advanced age, increasing to 12.5% for individuals with a family history of chronic lymphocytic leukemia. Three out of four individuals presented chronic lymphocytic leukemia-type immunophenotype, all with low counts. In turn, a significantly higher number of cells/uL is observed in these individuals in T lymphocyte subpopulations, together with a greater predisposition to the disease. The described clonal populations increase over time in a non-significant manner.Conclusions. The frequency and behavior of Monoclonal B-cell lymphocytosis in relatives with chronic B-cell lymphoproliferative disorders are like that found in related studies, which suggests that there is no involvement of more relevant genes that can trigger uncontrolled clonal proliferation, but that generates immune deregulation that could justify a greater risk of serious infection in these individuals.
Neutralizing antibody (NAb) activity against the viral capsid of adeno-associated viral (AAV) vectors decreases transduction efficiency, thus limiting transgene expression. Several reports have mentioned a variation in NAb prevalence according to age, AAV serotype, and, most importantly, geographic location. There are currently no reports specifically describing the anti-AAV NAb prevalence in Latin America. Here, we describe the prevalence of NAb against different serotypes of AAV vectors (AAV1, AAV2, and AAV9) in Colombian patients with heart failure (HF) (referred to as cases) and healthy individuals (referred to as controls). The levels of NAb were evaluated in serum samples of 60 subjects from each group using an in vitro inhibitory assay. The neutralizing titer was reported as the first dilution inhibiting ≥50% of the transgene signal, and the samples with neutralizing titers at ≥1:50 dilution were considered positive. The prevalence of NAb in the case and control groups were similar (AAV2: 43% and 45%, respectively; AAV1 33.3% in each group; AAV9: 20% and 23.2%, respectively). The presence of NAb for two or more of the serotypes analyzed was observed in 25% of the studied samples, with the largest amount in the positive samples for AAV1 (55–75%) and AAV9 (93%), suggesting serial exposures, cross-reactivity, or coinfection. Moreover, patients in the HF group exhibited more common combined seropositivity for NAb against AAV1 d AAV9 than those in the control group (91.6% vs. 35.7%, respectively; p = 0.003). Finally, exposure to toxins was significantly associated with the presence of NAb in all regression models. These results constitute the first report of the prevalence of NAb against AAV in Latin America, being the first step to implementing therapeutic strategies based on AAV vectors in this population in our region.
Abstract The objective of the present study was to evaluate the efficacy of oral administration of vitamin D supplementation in reducing BMI and lipid profile in adolescents and young adults from a cohort in Bucaramanga, Colombia. One hundred and one young adults were randomly assigned to one of two doses of vitamin D [1000 international units (IU) or 200 IU] administered daily for 15 weeks. The primary outcomes were serum 25(OH)D levels, BMI and lipid profile. The secondary outcomes were waist-hip ratio, skinfolds and fasting blood glucose. We found a mean ± sd plasma concentration of 25-hydroxyvitamin D [25(OH)D] was 25⋅0 ± 7⋅0 ng/ml at baseline, and after 15 weeks, it increased to 31⋅0 ± 10⋅0 ng/ml in the participants who received a daily dose of 1000 IU, (P < 0⋅0001). For the participants in the control group (200 IU), it went from 26⋅0 ± 8⋅0 ng/ml to 29⋅0 ± 8⋅0 ng/ml (P = 0⋅002). There were no differences between groups in body mass index. There was a statistically significant decrease in LDL-cholesterol between the intervention group v. the control group (mean difference −11⋅50 mg/dl (95 % CI −21⋅86 to −1⋅15; P = 0⋅030). The conclusions of the present study were two different doses of vitamin D supplementation (200 IU v. 1000 IU) produced changes in serum 25(OH)D levels over 15 weeks of administration in healthy young adults. No significant changes were found in the body mass index when the effect of the treatments was compared. A significant reduction in LDL-cholesterol was found when comparing the two intervention groups. Trial registration: NCT04377386
To quantify the association between maternal uric acid levels and pre-eclampsia risk in a large collection of primigravid women. A case–control study (1365 cases of pre-eclampsia and 1886 normotensive controls) was conducted. Pre-eclampsia was defined as blood pressure ≥ 140/90 mmHg and proteinuria ≥ 300 mg/24 h. Sub-outcome analysis included early, intermediate, and late pre-eclampsia. Multivariable analysis for pre-eclampsia and its sub-outcomes was conducted using binary and multinomial logistic regression, respectively. Additionally, a systematic review and meta-analysis of cohort studies measuring uric acid levels < 20 weeks of gestation was performed to rule out reverse causation. There was a positive linear association between increasing uric acid levels and presence of pre-eclampsia. Adjusted odds ratio of pre-eclampsia was 1.21 (95%CI 1.11–1.33) for every one standard deviation increase in uric acid levels. No differences in the magnitude of association were observed between early and late pre-eclampsia. Three studies with uric acid measured < 20 weeks’ gestation were identified, with a pooled OR for pre-eclampsia of 1.46 (95%CI 1.22–1.75) for a top vs. bottom quartile comparison. Maternal uric acid levels are associated with risk of pre-eclampsia. Mendelian randomisation studies would be helpful to further explore the causal role of uric acid in pre-eclampsia.
Objetivos: el cáncer de mama (CM) es la neoplasia más frecuente en Colombia. La supervivencia global a 5 años es <80 %, siendo el país latinoamericano con el peor pronóstico. Las estrategias preventivas como la identificación de población con riesgo de síndrome de CM y ovario hereditario (HBOC), tiene el potencial de reducir la incidencia de CM y disminuir los diagnósticos en estadios avanzados. La mayoría de los estudios publicados en población colombiana, han evaluado variantes reportadas como fundadoras, denominadas el “Perfil Colombia” o en población seleccionada con alta probabilidad de presentar HBOC. En este estudio realizamos un análisis genómico a gran escala para evaluar mutaciones germinales en pacientes con CM no seleccionadas, en múltiples regiones del país.
Introduction: The rapid spread of the SARS-CoV-2 virus worldwide has created a health emergency leading to overloading health systems and exposing the personnel who work in these health institutions to stressors that impact their physical and emotional health. Available information on conditions caused by viral outbreaks and previous pandemics indicates that healthcare workers and others on the front lines are at increased risk of infection and various adverse outcomes. Objective: To establish the prevalence of anxiety and depression symptoms and associated factors in frontline care workers during the COVID-19 pandemic in Bucaramanga and its Metropolitan Area, Santander, Colombia. Methods: Analytical cross-sectional study. The outcomes were symptoms of anxiety and depression assessed with the Hopkins Checklist-25 Scale (HSCL-25) questionnaire. The prevalence of anxiety and depression symptoms was calculated, and bivariate and multivariate analyses were performed using logistic regression. Results: A total of 1118 participants were included. The prevalence of anxiety symptoms was 5.55% (95% CI 4.27-7.05), depression 4.56% (95% CI 3.41-5.95), and both 7.42% (95% CI 5.95-9.12). In the bivariate analysis, seven factors were associated with symptoms of anxiety and depression, however, only four of them remained in the multivariate model: marital status OR: 2.65 (95% CI 1.17-5.98); obesity (OR: 3.21 ,95% CI 1.67-6.17); “someone in your household has been diagnosed with COVID-19” (OR: 2.28 ,95% CI 1.39-3.76) and “has symptoms of COVID-19 in the last 14 days” (OR: 2.09 ,95% CI 1.25-3.50). Conclusions: The prevalence of symptoms of anxiety and depression was lower than that reported in other studies. However, it is important to continue taking these symptoms into account and, as necessary, conduct an intervention with psychological support programs by mental health specialists.
Objetivo: describir mediante la aplicación de minería de datos quién desarrolla obesidad y síntomas depresivos (SD) en la población adolescente de la ciudad de Bucaramanga. Métodos: a través de un estudio descriptivo y transversal anidado en una cohorte poblacional. Se evaluaron 432 adolescentes. Se captó información de variables sociodemográficas, SD y medidas antropométricas. Se llevaron a cabo análisis estadísticos para variables categóricas y continuas, así como un análisis de minería de datos. Resultados: el 26.7% de los adolescentes presentó exceso de peso. Se observó que más de la mitad de la muestra presentó SD. El análisis de minería de datos permitió identificar seis grupos de participantes de acuerdo con sus características con relación al peso y a los SD. Conclusiones: la relación entre SD y obesidad se estableció en el grupo de mujeres adolescentes, observándose que aquellas con un peso mayor a 2 desviaciones estándar presentaban todos los SD.
Supporting homeostasis in a pregnant woman with brain death to achieve fetal viability is called somatic support. We present a case of young pregnant woman at 21 weeks' gestation who developed acute respiratory distress syndrome secondary to influenza A H2N3 infection requiring veno-venous extracorporeal membrane oxygenation (VV ECMO) support for refractory hypoxemia. The clinical course was complicated by intracranial hemorrhage and subsequent brain death. After multidisciplinary team discussion with her family, consensus was reached to continue somatic support with VV ECMO to enable fetal development to attain extrauterine viability. The challenging clinical, ethical, and legal concerns are discussed.
Introduction In Colombia Breast cancer (BC), is the most frequent and has the highest mortality rate among all types of cancer. There are few studies of the genomic profile in unselected affected population by BC in Colombia. Some of these studies have only tested the presence of variants reported as founders named “Colombian Profile”.We conducted a large-scale genomic analysis using Whole Exome Sequencing (WES) to evaluate germline mutations in unselected BC patients. Methods This trial included 299 unselected BC female patients aged over 18 years old, without personal and family history of germline BC risk mutations.The protocol was approved by the IRC and EC of Fundación Cardioinfantil (FCI). All patients signed informed consent before recruitment.Genomic DNA was extracted from peripheral blood samples and was used to WES (Novogene Inc. Beijing, China). The variants were filtered using VarSeq v2.1.1 software, following the criteria: missense, non-sense, frameshift, and intronic variants, we additionally considered a MAF ≤0.01 for ATM, CHEK2, and PALB2 genes.Clinical significance of each variant was annotated according to the ACMG/AMP and ENIGMA guidelines.MLPA was assessed using the commercial kit SALSA MLPA Probemix P002-D1 for BRCA1 and P090-C1 for BRCA2 (MRC-Holland, Amsterdam).This study was financially supported by an unrestricted grant from Pfizer. Results This abstract is the first report from 299 patients. To determine the presence of germline variants in the patients a WES was performed. Here we describe the pathogenic and probably pathogenic mutations in BRCA1, BRCA2, ATM, CHEK2, PALB2. We found BRCA1/2 alterations were found in 3.7% of the patients (11 patients, IC 95% 1.7-5.6%), 5 patients in BRCA1 and 6 patients in BRCA2 (1.7% IC 95% 0.7-4%, and 2% IC 95% 0.9-4.4% respectively). We found 29 patients had mutations unrelated to BRCA1/2 (9.5% IC 95% 5.8-11.7%). The most frequently affected gene was ATM (17 patients, 5.7% IC95% 3.6-9%). Discussion and conclusion We found that 12.2% of the population of the study were carriers of a pathogenic/likely pathogenic variant in the evaluated genes, and interestingly 9.5% of them corresponded to non-BRCA1/2 genes. ATM variants have a prevalence of 5.7% in the whole population and represent 42% of all the variants. Other mutations in genes like BRCA2, ATM and CHEK2 were exclusive in non-TNBC. Meanwhile, BRCA1 and PALB2 mutations had higher frequencies in TNBC. We identified five novel mutations.We demonstrate that LGRs are not an important molecular cause in non-hereditary cases of BC.27% of the carriers of mutations in BRCA1/2 did not fulfilled NCCN criteria and 82% of the mutations are not described in “Colombian Profile”. These findings demonstrate the particular genetic profile in an unselected population with breast cancer, and this highlights the importance of WES as a molecular diagnostic tool. We think that universal germline testing in cancer should be considered. Baseline demographic and clinical characteristics Demographic and clinical characteristics of patients with pathogenic and likely pathogenic mutationsVariableBRCA1 n (%, IC 95%)BRCA2 n (%, IC 95%)ATM n (%, IC 95%)PALB2 n (%, IC 95%)CHEK2 n (%, IC 95%)Median age37.4 (22.4 – 54.3)45.5 (36.2 – 54.7)53.1 (45.4 – 60.7)55.8 (27.9 – 83.5)NA*Age≤ 50 years4 (80, 11.1 – 99.2%)4 (66.7, 14.8 – 95.8%)8 (47.1, 23.5 – 80%)2 (50, 24.7 – 97.5)NA*> 50 years1 (20, 0.7 – 88.9%)2 (33.3, 4 – 85%)9 (52.9, 28 – 76.5%)2 (50, 24.7 – 97.5)OverweightYes4 (80, 11 – 99-2%)(33.3, 4 – 85%)9 (52.9, 28 – 76.5%) 3 (75, 0.4 – 99.5%)NA*No1 (20, 0.8 – 88.9%)(66.7, 14.9 – 94.8%)8 (47, 23.5 – 80%)1 (25, 0.4 – 95.9%)Estrogen receptor(+)2 (0.9%, 0.2 – 3.5%)5 (2.2%, 0.9 – 5.3%)16 (7.1%, 4.4 – 11.3%)3 (1.3%, 0.4 – 4.1%)3 (1.3%, 0.4 – 4.1%)(-)3 (4.3%, 1.4 – 12.6%)1 (1.4%, 0.2 – 9.6%)1 (1.4%, 0,2 – 9.6%)1 (1.4%, 0.2 – 9.6%)1 (1.4%, 0.2 – 9.6%)Progesterone receptor(+)2 (0.9%, 0.2 – 3.5%)5 (2.2%, 0.9 – 5.3%)13 (6%, 3.7 – 10.5%)3 (1.3%, 0.4 – 4.1%)4 (1.9%, 0.7 – 5%)(-)3 (4.3%, 1.4 – 12.6%)1 (1.4%, 0,2 – 9.6%)4 (4%, 1.7 – 11.7%)1 (1.4%, 0.2 – 9.6%)0HER-2 3+Yes1 (1.3%, 0.2 – 8.5%)1 (1.3%, 0.2 – 8.5%)4 (5%, 1.9 – 12.7%)1 (1.3%, 0.2 – 8.5%)2 (2.5%, 0.6 – 9.6%)No4 (1.9%, 0.7 – 4.9%)5 (2.3, 0.1 – 5.5%)13 (6%, 3.5- 10.2%)3 (1.4%, 0.4 – 4.3%)2 (0.9%, 0.2 – 3.7%)ER/Pgr y HER-2 negativeYes2 (5.1, 1.3 – 18.7%)001 (2.5%, 0-3 – 16.5%)0No3 (1.2%, 0.4 – 3.6%)6 (2.3%, 1 – 5.1%)17 (6.6%, 4-2 – 10.4%)3 (1.2%, 0.4 – 3.6%)4 (1.6%, 0.6 – 4.1%)Ki67<20%0 1 (16.7, 0.9 – 81%) 5 (29.4, 11.5 – 57.1)0NA*≥20%5 (100%)5 (83.3, 18.6 – 99%)12 (70.6, 42.8 – 88.5%)4 (100%)Median tumoral size mm (min-max)24 (19.6 – 47.8)21 (12.5 – 29.5)24.9 (19.6 – 30.3)27.6 (0 – 59)NA* Lymph nodes involvementYes1 (0.7%, 0.1 – 4.6%)2 (1.3%, 0.3 – 5.2%)10 (6.7%, 3.6 – 12.1%)3 (2%, 0.6 – 6.1%)4 (2.7%, 1 – 7%)1No4 (2.7%, 1 – 7%)4 (2.7%, 1 – 7%)7 (4.7%, 2.2 – 9.5%)1 (0.7%, 0.1 – 4.6%)0MetastasisYes00001 (9%, 1.1 – 46.6%)2No5 (1.9%, 0.8 – 4.5%)6 (2.3%, 1 – 5%)17 (5.7%, 3.5 – 9.3%)4 (1.5 – 0.5 – 4%)3 (1.1%, 0.4 – 3.5%)Clinical stage (AJCC)I2 (40, 3.7 – 91.9%)1 (16.7, 0.9 – 81.3%)4 (23.5, 81 – 51.8%)0NA*II2(40 3.7 – 91.9%)4 (66.7, 14.8 – 95.8%)7 (41.2, 19.3 – 67.3%)4 (100%)III1 (20, 0.7 – 88.9%)1 (16.7, 0.9 – 81.3%)6 (23-3, 15.2 – 62.3%)0IV0000Family history for cancerYes4 (80, 11.1 – 99.2%)5 (83.3, 9 – 81.4%)13 (76.5 – 48.2 – 91.9%)2 (50, 2- 97.5%)NA*No1 (20, 0.7 – 88-9)1 (16.7, 0.9 – 81.4%)4 (23, 8 – 51.8%)2 (50, 2- 97.5%)NCCN criteriaYes4 (2.4%, 0.9 – 6.3%)4 (2.4%, 0.9 – 6.3%)NA*NA*NA*No1 (0.8%, 0.1 – 5.9%)2 (1.7%, 0.4 – 6.6%)Colombian profileYes1 (50%, 19 – 98%)31(50%, 19 – 98%)3NA*NA*NA*No4 (13.5%, 5 – 35.5%)5 (17%, 7 – 40%) Citation Format: Diana Carolina Sierra-Díaz, Adrien Morel, Dora Janeth Fonseca, Nora Contreras, Mariana Angulo-Aguado, Valentina Balaguera, Kevin Llinás-Caballero, Isabel Munevar, Mariana Borras, Mauricio Lema, Henry Idrobo, Daniela Trujillo, Norma Serrano, Ana Isabel Orduz, Diego Lopera, Jaime Gonzalez, Gustavo Rojas, Paula Londoño, Ray Manneh, Catalina Quintero, Paul Laissue, Rodrigo Cabrera, Carlos M Restrepo, William Mantilla. Genetic profile of germline mutations in unselected women with breast cancer in a Colombian population [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P3-07-05.
Introduction Tracheostomy is one of the most common surgical strategies in intensive care units (ICU) and provides relevant clinical benefit for multiple indications. However, the complications associated with its use range from 5 to 40% according to different series. The risk of these complications could be reduced if fixation strategies and alignment of the tracheostomy tube with respect to the tracheal axis are improved. Aim To build a functional device of technological innovation in respiratory medicine for the fixation and alignment of tracheostomy cannula (acronym DYNAtraq) and to evaluate its feasibility and safety in a pilot study in mechanically ventilated patients. Methods Study carried out in four phases: (1) design engineering and functional prototyping of the device; (2) study of cytotoxicity and tolerance to the force of traction and push; (3) pilot study of feasibility and safety of its use in tracheostomized and mechanically ventilated patients; and (4) health workers satisfaction study. Results The design of the innovative DYNAtraq device included, on the one hand, a connector with very little additional dead space to be inserted between the cannula and the ventilation tubes, and, on the other hand, a shaft with two supports for adhesion to the skin of the thorax with very high tolerance (several kilograms) to pull and push. In patients, the device corrected the malpositioned tracheostomy tubes for the latero-lateral (p < 0.001) and cephalo-caudal angles (p < 0.001). Its effect was maintained throughout the follow-up time (p < 0.001). The use of DYNAtraq did not induce serious adverse events and showed a 70% protective effect for complications (RR = 0.3, p < 0.001) in patients. Conclusion DYNAtraq is a new device for respiratory medicine that allows the stabilization, alignment and fixation of tracheostomy tubes in mechanically ventilated patients. Its use provides additional benefits to traditional forms of support as it corrects misalignment and increases tolerance to habitual or forced movements. DYNAtraq is a safe element and can reduce the complications of tracheostomy tubes.