Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report.

BACKGROUND: Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene TP53. This gene codes for the P53 protein, a crucial player in genomic stability, which functions as a tumor suppressor gene. Individuals with LFS frequently develop multiple primary tumors at a young age, such as soft tissue sarcomas, breast cancer, and brain tumors. CASE PRESENTATION: A 38 years-old female with a history of femur osteosarcoma, ductal carcinoma of the breast, high-grade breast sarcoma, pleomorphic sarcoma of the left upper limb, infiltrating lobular carcinoma of the breast, gastric adenocarcinoma, leiomyosarcoma of the right upper limb, and high-grade pleomorphic renal sarcoma. Complete molecular sequencing of the TP53 gene showed c.586 C > T (p.R196X) in exon 6, which is a nonsense mutation that produces a shorter and malfunctioning P53. Family history includes advanced father's age at the time of conception (75 years), which has been associated with an increased risk of de novo germline mutations. The patient had seven paternal half-siblings with no cancer history. The patient received multiple treatments including surgery, systemic therapy, and radiotherapy, but died at the age of 38. CONCLUSIONS: Advanced paternal age is a risk factor to consider when hereditary cancer syndrome is suspected. Early detection of hereditary cancer syndromes and their multi-disciplinary surveillance and treatment is important to improve clinical outcomes for these patients. Further investigation of the relationship between the pathogenic variant of TP53 and its phenotype may guide the stratification of surveillance and treatment.

Survival of patients living with HIV and cancer in Cali, Colombia.

Background: People living with HIV have an increased risk of cancer compared to the general population. However, with the increase in life expectancy and advances in antiretroviral therapy, the survival of patients with cancer and HIV has changed. Objective: To determine the survival of patients living with HIV and cancer in Cali, Colombia. Methods: A retrospective cohort study was conducted at the Fundación Valle del Lili, Cali, Colombia. Data from the HIV database was crossed with data from the hospital and population-based cancer registries between 2011-2019. Patients <18 years, limited available clinical information on the diagnosis and treatment of HIV and cancer, and non-oncological tumor diagnosis were excluded. Results: A total of 173 patients were included. The frequencies of AIDS-defining neoplasms were: Non-Hodgkin lymphoma (42.8%), Kaposi sarcoma (27.8%), and cervical cancer (4.6%). Overall survival was 76.4% (95% CI 68.9-82.3) at five years. Poorer survival was found in patients with AIDS-defining infections (56.9% vs. 77.8%, p=0.027) and non-AIDS-defining infections (57.8% vs. 84.2%, p=0.013), while there was better survival in patients who received antiretroviral therapy (65.9% vs. 17.9%, p=0.021) and oncological treatment (66.7% vs. 35.4%, p<0.001). The presence of non-AIDS-defining infections increases the risk of dying (HR = 2.39, 95% CI 1.05-5.46, p=0.038), while oncological treatment decreases it (HR = 0.33, 95% CI 0.14-0.80, p=0.014). Conclusions: In people living with HIV, Non-Hodgkin lymphoma and Kaposi sarcoma are the most common neoplasms. Factors such as AIDS-associated and non-AIDS-associated infections have been identified as determinants of survival. Cancer treatment seems to improve survival.

Antecedentes: Las personas que viven con VIH tienen un riesgo mayor de cáncer en comparación con la población general. Sin embargo, con el aumento de la esperanza de vida y los avances en la terapia antirretroviral, la supervivencia de los pacientes con cáncer y VIH ha cambiado. Objetivo: Determinar la supervivencia de los pacientes que viven con VIH y cáncer en Cali, Colombia. Métodos: Se realizó un estudio de cohorte retrospectivo en la Fundación Valle del Lili, Cali, Colombia. Los datos de la base de datos de VIH se cruzaron con los datos de los registros de cáncer de base hospitalaria y poblacional entre 2011-2019. Se excluyeron los pacientes <18 años, con información clínica limitada disponible sobre el diagnóstico y tratamiento del VIH y el cáncer y los casos con diagnóstico de tumor no oncológico. Resultados: Se incluyeron un total de 173 pacientes. Las frecuencias de neoplasias definitorias de SIDA fueron: linfoma no Hodgkin (42.8%), sarcoma de Kaposi (27.8%) y cáncer cervical (4.6%). La supervivencia global fue del 76.4% (IC 95% 68.9-82.3) a los cinco años. Se encontró una peor supervivencia en pacientes con infecciones definitorias de SIDA (56.9% vs. 77.8%, p=0.027) e infecciones no definitorias de SIDA (57.8% vs. 84.2%, p=0.013), mientras que hubo una mejor supervivencia en pacientes que recibieron terapia antirretroviral (65.9% vs. 17.9%, p=0.021) y tratamiento oncológico (66.7% vs. 35.4%, p<0.001). La presencia de infecciones no definitorias de SIDA aumentó el riesgo de morir (HR = 2.39, IC 95% 1.05-5.46, p=0.038), mientras que el tratamiento oncológico lo disminuyó (HR = 0.33, IC 95% 0.14-0.80, p=0.014). Conclusiones: En las personas que viven con VIH, el linfoma no Hodgkin y el sarcoma de Kaposi son las neoplasias más comunes. Se han identificado factores como las infecciones asociadas al SIDA y las infecciones no asociadas al SIDA como determinantes de la supervivencia. El tratamiento del cáncer parece mejorar la supervivencia.

Discordancia entre pruebas de susceptibilidad genotípicas y fenotípicas para tuberculosis en Cali, Colombia: un reto en la práctica clínica

Introducción: La detección de patrones de resistencia de Mycobacterium tuberculosis se basa en pruebas de susceptibilidad fenotípicas y genotípicas. Los resultados discordantes entre ellas son un desafío clínico para el manejo de pacientes con tuberculosis resistente a fármacos. Objetivo: Evaluar la concordancia entre pruebas fenotípicas y moleculares en pacientes con tuberculosis resistente a fármacos atendidos en una institución de Cali, Colombia. Materiales y Métodos: Se realizó un estudio transversal en el que se obtuvo el perfil de sensibilidad fenotípico de cultivos de micobacterias y la susceptibilidad genotípica con las pruebas moleculares Xpert-MTB/ RIF® o Genotype-MDRTBplus ®. Se evaluó el porcentaje de resistencia y porcentaje de acuerdo entre los resultados de las pruebas fenotípicas y genotípicas. Se estimó un coeficiente de kappa de Cohen (κ) para cada tipo de resistencia según la prueba utilizada. Resultados: Se incluyeron 30 casos con resultados de pruebas genotípicas y fenotípicas. Las pruebas fenotípicas detectaron resistencia a fármacos de primera línea en 29/30 casos, mientras que las moleculares detectaron la resistencia en todos los casos evaluados. El porcentaje de resistencia a rifampicina detectado entre la prueba fenotípica y Genotype-MDRTBplus ® &e 61,5% (acuerdo global 41,1%, κ = 0,40, p = 0,96), mientras que el porcentaje de resistencia detectado con Xpert-MTB/RIF® fue 100% (acuerdo global 81,82%, κ: 0,00, p < 0,001) para este mismo medicamento. El porcentaje de resistencia a isoniacida detectado entre la prueba fenotípica y Genotype-MDRTBplus ® fue 94,4% (acuerdo global 89,47%, κ: -0,055 p = 0,59). Conclusiones: La discordancia entre los resultados de las pruebas genotípicas y fenotípicas es posible, por lo que es importante usar e interpretar ambos tipos de pruebas de manera complementaria en el diagnóstico de la resistencia a fármacos de primera línea en la infección por M. tuberculosis.

Background: The detection of Mycobacterium tuberculosis resistance patterns is based on phenotypic and genotypic susceptibility tests. The discordant results between them are a clinical challenge for the management of patients with drug-resistant tuberculosis. Aim: To evaluate the concordance between phenotypic and molecular tests in patients with drug-resistant tuberculosis treated in an institution in Cali, Colombia. Methods: A cross-sectional study was conducted. A phenotypic sensitivity profile was obtained from mycobacterial cultures. The genotypic susceptibility was obtained with Xpert-MTB/ RIF® or Genotype-MDRTBplus ®. The percentage of resistance and percentage of agreement between the results of the phenotypic and genotypic tests were evaluated. A Cohen's kappa coefficient (κ) was estimated for each type of resistance according to the test used. Results: A total of 30 cases with both genotypic and phenotypic testing were included. The phenotypic tests detected resistance to first-line drugs in 29/30 cases, while the molecular tests detected resistance in all the cases evaluated. The percentage of resistance detected between Genotype-MDRTBplus® and the phenotypic test for rifampicin was 61.5% (overall agreement 41.1%, κ = 0.40, p = 0.96), while the percentage of resistance detected with XpertMTB/RIF® was 100% (overall agreement 81.82%, κ: 0.00, p < 0.001) for this same drug. Resistance to isoniazid detected by both types of tests was 94.4% (overall agreement 89.47%, κ: -0.055 p = 0.59). Conclusions: Discordance between the results of genotypic and phenotypic tests is possible, so it is important to use and interpret both types of tests in a complementary way in the diagnosis of resistance to first-line drugs in M. tuberculosis infection.

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.

Survival of patients living with HIV and cancer in Cali, Colombia

Background: People living with HIV have an increased risk of cancer compared to the general population. However, with the increase in life expectancy and advances in antiretroviral therapy, the survival of patients with cancer and HIV has changed. Objective: To determine the survival of patients living with HIV and cancer in Cali, Colombia Methods: A retrospective cohort study was conducted at the Fundación Valle del Lili, Cali, Colombia. Data from the HIV database was crossed with data from the hospital and population-based cancer registries between 2011-2019. Patients <18 years, limited available clinical information on the diagnosis and treatment of HIV and cancer, and non-oncological tumor diagnosis were excluded. Results: A total of 173 patients were included. The frequencies of AIDS-defining neoplasms were: Non-Hodgkin lymphoma (42.8%), Kaposi sarcoma (27.8%), and cervical cancer (4.6%). Overall survival was 76.4% (95% CI 68.9-82.3) at five years. Poorer survival was found in patients with AIDS-defining infections (56.9% vs. 77.8%, p=0.027) and non-AIDS-defining infections (57.8% vs. 84.2%, p=0.013), while there was better survival in patients who received antiretroviral therapy (65.9% vs. 17.9%, p=0.021) and oncological treatment (66.7% vs. 35.4%, p<0.001). The presence of non-AIDS-defining infections increases the risk of dying (HR = 2.39, 95% CI 1.05-5.46, p=0.038), while oncological treatment decreases it (HR = 0.33, 95% CI 0.14-0.80, p=0.014). Conclusions: In people living with HIV, Non-Hodgkin lymphoma and Kaposi sarcoma are the most common neoplasms. Factors such as AIDS-associated and non-AIDS-associated infections have been identified as determinants of survival. Cancer treatment seems to improve survival.

Antecedentes: Las personas que viven con VIH tienen un riesgo mayor de cáncer en comparación con la población general. Sin embargo, con el aumento de la esperanza de vida y los avances en la terapia antirretroviral, la supervivencia de los pacientes con cáncer y VIH ha cambiado. Objetivo: Determinar la supervivencia de los pacientes que viven con VIH y cáncer en Cali, Colombia. Métodos: Se realizó un estudio de cohorte retrospectivo en la Fundación Valle del Lili, Cali, Colombia. Los datos de la base de datos de VIH se cruzaron con los datos de los registros de cáncer de base hospitalaria y poblacional entre 2011-2019. Se excluyeron los pacientes <18 años, con información clínica limitada disponible sobre el diagnóstico y tratamiento del VIH y el cáncer y los casos con diagnóstico de tumor no oncológico. Resultados: Se incluyeron un total de 173 pacientes. Las frecuencias de neoplasias definitorias de SIDA fueron: linfoma no Hodgkin (42.8%), sarcoma de Kaposi (27.8%) y cáncer cervical (4.6%). La supervivencia global fue del 76.4% (IC 95% 68.9-82.3) a los cinco años. Se encontró una peor supervivencia en pacientes con infecciones definitorias de SIDA (56.9% vs. 77.8%, p=0.027) e infecciones no definitorias de SIDA (57.8% vs. 84.2%, p=0.013), mientras que hubo una mejor supervivencia en pacientes que recibieron terapia antirretroviral (65.9% vs. 17.9%, p=0.021) y tratamiento oncológico (66.7% vs. 35.4%, p<0.001). La presencia de infecciones no definitorias de SIDA aumentó el riesgo de morir (HR = 2.39, IC 95% 1.05-5.46, p=0.038), mientras que el tratamiento oncológico lo disminuyó (HR = 0.33, IC 95% 0.14-0.80, p=0.014). Conclusiones: En las personas que viven con VIH, el linfoma no Hodgkin y el sarcoma de Kaposi son las neoplasias más comunes. Se han identificado factores como las infecciones asociadas al SIDA y las infecciones no asociadas al SIDA como determinantes de la supervivencia. El tratamiento del cáncer parece mejorar la supervivencia.

Challenges in the care of Ewing's sarcoma in a Jehovah's Witness patient / Desafíos en el manejo del sarcoma de Ewing en una paciente testigo de Jehová

Ewing's sarcoma is a bone and soft tissue neoplasm, whose management is related to hematological toxicity. This aspect represents a medical and ethical challenge in Jehovah's Witnesses patients, who, due to their religious beliefs, reject the blood component transfusion, with the risk of discontinuing chemotherapy or using suboptimal doses. We present the case of a 34-year-old Colombian woman, Jehovah's Witness, diagnosed with Ewing's sarcoma with clinical stage IIB (T1N0M0) in the left maxillary and mandibular regions, treated with chemotherapy, who presented a hemoglobin nadir of up to 4.5 g/dL, and surgical indication as part of the treatment. In these patients, the transfusion decision has ethical implications that require therapeutic alternatives and a multidisciplinary approach.

El sarcoma de Ewing es una neoplasia de hueso y tejidos blandos, cuyo manejo se relaciona con toxicidad hematológica. Este aspecto representa un desafío médico y ético en los pacientes testigos de Jehová quienes, por sus creencias religiosas, rechazan la aplicación de hemoderivados, con riesgo de que se descontinúe la quimioterapia o de que se utilicen dosis subóptimas. Se presenta el caso de una mujer colombiana de 34 años, testigo de Jehová, con diagnóstico de sarcoma de Ewing con estadificación clínica IIB (T1N0M0) en las regiones maxilar y mandibular izquierdas, tratada con  quimioterapia, quien presentó un valor mínimo de hemoglobina de hasta 4,5 g/dl y tuvo indicación quirúrgica como parte del tratamiento. En estos pacientes, la decisión de practicar una transfusión comprende implicaciones éticas que requieren alternativas terapéuticas y un abordaje multidisciplinario.

Survival in Elderly Patients Diagnosed With Acute Myeloid Leukemia: A Hospital-Based Study.

Background: Acute myeloid leukemia (AML) is a hematological neoplasm that is more frequent in elderly patients. The objective of this study was to evaluate elderly patients' survival with de novo AML and acute myeloid leukemia myelodysplasia-related (AML-MR), treated with intensive and less-intensive chemotherapy and supportive care. Methods: A retrospective cohort study was conducted in Fundacion Valle del Lili (Cali, Colombia), between 2013 and 2019. We included patients ≥ 60 years old diagnosed with AML. The statistical analysis considered the leukemia type (de novo vs. myelodysplasia-related) and treatment (intensive chemotherapy regimen, less-intensive chemotherapy regimen, and without chemotherapy). Survival analysis was performed using Kaplan-Meier method and Cox regression models. Results: A total of 53 patients were included (31 de novo and 22 AML-MR). Intensive chemotherapy regimens were more frequent in patients with de novo leukemia (54.8%), and 77.3% of patients with AML-MR received less-intensive regimens. Survival was higher in the chemotherapy group (P = 0.006), but with no difference between chemotherapy modalities. Additionally, patients without chemotherapy were 10 times more likely to die than those who received any regimen, independent of age, sex, Eastern Cooperative Oncology performance status, and Charlson comorbidity index (adjusted hazard ratio (HR) = 11.6, 95% confidence interval (CI) 3.47 - 38.8). Conclusions: Elderly patients with AML had longer survival time when receiving chemotherapy, regardless of the type of regimen.

Gastric adenocarcinoma burden, trends and survival in Cali, Colombia: A retrospective cohort study.

Background: Gastric adenocarcinoma (GA) has changed in recent decades. Cancer estimates are often calculated from population-based cancer registries, which lack valuable information to guide decision-making (clinical outcomes). We describe the trends in clinical practice for GA using a hospital-based cancer registry over a timespan of 15 years. Methods: A retrospective cohort study was conducted. Data were gathered from adults diagnosed and treated for GA at Fundación Valle del Lili (FVL), between 2000 and 2014, from the hospital's own cancer registry and crossed with Cali's Cancer Registry. Additional data were obtained directly from clinical records, pathology reports and the clinical laboratory. Patients younger than 18 years and those for whom limited information was available in the medical history were excluded. A survival analysis was conducted using Kaplan-Meier method. Results: A total of 500 patients met eligibility criteria. Median age was 64 years (IQR: 54-74 years), 39.8% were female, 22.2% were at an early stage, 32.2% had a locally advanced disease, and 29% a metastatic disease, 69% had intestinal subtype, 48.6% had a positive H. pylori test, 85.2% had a distal lesion, 62% underwent gastrectomy, 60.6% lymphadenectomy, and 40.6% received chemotherapy. Survival at 5 years for all cases was 39.9% (CI 95% 35.3-44.5). Survival decreased over time in all groups and was lower in age-groups <39 and 60-79 with either locally advanced or metastatic disease. Prognostic factors that were significant in the Cox proportional-hazards model were late stages of the tumor (locally advanced: HR=2.52; metastatic: HR=4.17), diffuse subtype (HR=1.40), gastrectomy (subtotal: HR=0.42; total: 0.44) and palliative chemotherapy (HR=0.61). Conclusions: The treatment of GA has changed in recent decades. GA survival was associated with clinical staging, diffuse subtype, gastrectomy and palliative chemotherapy. These findings must be interpreted in the context of a hospital-based study.

Desafíos en el manejo del sarcoma de Ewing en una paciente testigo de Jehová / Challenges in the care of Ewing's sarcoma in a Jehovah's Witness patient

El sarcoma de Ewing es una neoplasia de hueso y tejidos blandos, cuyo manejo se relaciona con toxicidad hematológica. Este aspecto representa un desafío médico y ético en los pacientes testigos de Jehová quienes, por sus creencias religiosas, rechazan la aplicación de hemoderivados, con riesgo de que se descontinúe la quimioterapia o de que se utilicen dosis subóptimas. Se presenta el caso de una mujer colombiana de 34 años, testigo de Jehová, con diagnóstico de sarcoma de Ewing con estadificación clínica IIB (T1N0M0) en las regiones maxilar y mandibular izquierdas, tratada con quimioterapia, quien presentó un valor mínimo de hemoglobina de hasta 4,5 g/dl y tuvo indicación quirúrgica como parte del tratamiento. En estos pacientes, la decisión de practicar una transfusión comprende implicaciones éticas que requieren alternativas terapéuticas y un abordaje multidisciplinario.

Ewing's sarcoma is a bone and soft tissue neoplasm, whose management is related to hematological toxicity. This aspect represents a medical and ethical challenge in Jehovah's Witnesses patients, who, due to their religious beliefs, reject the blood component transfusion, with the risk of discontinuing chemotherapy or using suboptimal doses. We present the case of a 34-year-old Colombian woman, Jehovah's Witness, diagnosed with Ewing's sarcoma with clinical stage IIB (T1N0M0) in the left maxillary and mandibular regions, treated with chemotherapy, who presented a hemoglobin nadir of up to 4.5 g/dL, and surgical indication as part of the treatment. In these patients, the transfusion decision has ethical implications that require therapeutic alternatives and a multidisciplinary approach.

Indigenous communities in Colombia: A cultural and holistic view of cancer management.

Cancer is one of the most burdening global health challenges. Indigenous communities are at high risk for worse healthcare outcomes because of inequalities in the incidence, prevalence, and mortality of oncological diseases, that arise from socioeconomic, racial, cultural, religious beliefs, and ethnic factors. Their perception about themselves is closely related to what affects their territory, making them possess a profound rooted feeling with their surroundings, and intense spiritual believes. Consequently, the disease process is linked to physical and emotional imbalances and alterations in their territory. Researchers from the United States, Canada, New Zealand, and Australia have worked diligently to learn about barriers to cancer management among these populations. Unfortunately, robust cancer data is lacking for most of the world's Indigenous, leading to obstacles in information systems and consequently, inequities in healthcare with the perpetuation of the problem. Therefore, a better understanding of cancer as a global health problem is required. Our study aims to propose a holistic and culturally adapted framework to improve cancer health services and outcomes among Indigenous peoples in Colombia.

Haploidentical and Matched Sibling Transplantation for Acute Myeloid Leukemia: A Hospital-Based Study.

Background: Allogeneic peripheral blood stem cell transplantation (PBSCT) has been increasing for the last years in Latin America. The objective of this study was to describe clinical outcomes in acute myeloid leukemia (AML) receiving allogeneic PBSCT between 2013 and 2019 in a single center of Cali, Colombia. Methods: A retrospective cohort study was conducted in Fundacion Valle del Lili. Patients diagnosed with AML who received an allogeneic PBSCT between 2013 and 2019 using human leukocyte antigen (HLA)-matched sibling donors (MSDs) or haploidentical related donors (HRDs) with myeloablative conditioning regimen were included. Cases with diagnosis of promyelocytic leukemia, myelodysplastic syndrome-related AML and therapy-related AML were excluded. Data were obtained directly from the hospital PBSCT database and clinical records. Results: A total of 50 patients were included (HRD, n = 32; MSD, n = 18). Sixty-two percent was in the first complete remission (CR1) at the time of the transplant, of which 26% were MSD and 74% were HRD. The European Group for Blood and Marrow Transplantation (EBMT) risk score was: 44% vs. 50% low, 28% vs. 28% intermediate and 28% vs. 22% high for MSD vs. HRD, respectively. Overall survival at 5 years for MSD was 62% (95% confidence interval (CI): 31-83%) and 43% (95% CI: 25-60%) for HRD. Event-free survival was 56% (95% CI: 26-78%) and 35.6% (95% CI: 18-53%), respectively. Non-relapse mortality at day-100 was 6% (95% CI: 0.8-35%) and 20% (95% CI: 9-39%). Relapse at5 years was 18% (95% CI: 4-58%) and 25% (95% CI: 10-52%). Overall mortality rate was 46%. The grade II-IV, III-IV acute graft-versus-host disease and severe chronic graft-versus-host disease was 44%, 11% and 12% for MSD, and 43%, 9% and 0% for HRD. Conclusion: These results underline that MSD remains the first donor choice for AML patients in CR1 when available. HRDs are still our next option among alternative donors. It is necessary to find strategies that have a positive impact on those outcomes that markedly affect the quality of allogeneic PBSCT and the prognosis of patients. Comparative, randomized, prospective studies with longer follow-up of haploidentical allogeneic PBSCT with other donor types are required to definitely establish its role among alternative donors.

Clinical usefulness of cancer antigen 125 biomarker for diagnosing tuberculosis: experience in Cali, Colombia / Utilidad del biomarcador antigeno del cáncer 125 para el diagnóstico de tuberculosis: experiencia en Cali, Colombia

Abstract Introduction: Diagnosing extra-pulmonary tuberculosis (EPTB) is a challenge for physicians. It has been suggested that cancer antigen 125 (CA-125), which is produced by mesothelial cells, may be an EPTB diagnostic biomarker. Objective: To describe serum CA-125 levels behavior in patients with TB treated in a referral university hospital located in Cali, Colombia. Materials and methods: A cross-sectional study was conducted in 99 TB patients treated at Fundación Valle del Lili between 2007 and 2016 with CA-125 measurements (U/mL) made before TB treatment was started. Cases were classified as pulmonary TB (PTB) (n=33) or EPTB (n=66). A bivariate analysis was performed to compare the variables of interest (sociodemographic, clinical, and laboratory findings data) between EPTB and PTB groups, and to determine differences between patients with CA-125 positive results and those with negative results in relation to mortality. Results: Elevated CA-125 levels were reported in 55 patients (55.56%), and positive CA-125 results (>35 U/mL) were more frequent in the EPTB group (59.09% vs. 48.48%). In the EPTB group, results were positive in tuberculous serositis cases (100% pericardial TB, 68.42% peritoneal TB, and 66.66% pleural TB), and in 66.66% of miliary TB and spinal TB cases, respectively. Also, 15 TB infection-related deaths were reported in the follow-up period (n=66), of which 13 had a CA-125 positive result, finding a significant difference with those with negative results (p=0.021); however, 47.05% of the surviving patients also had a positive result. Conclusions: Most of tuberculous serositis, miliary TB, and spinal TB cases showed elevated CA-125 levels before starting TB treatment. Therefore, CA-125 may be useful for prognostic purposes in these patients.

Resumen Introducción. El diagnóstico de la tuberculosis extrapulmonar (TBEP) es un reto para los médicos. Se ha sugerido que el antígeno del cáncer 125 (CA-125), producido por las células mesoteliales, puede ser un biomarcador diagnóstico de TBEP. Objetivo. Describir el comportamiento de los niveles séricos del CA-125 en pacientes con tuberculosis (TB) atendidos en un hospital de referencia de Cali, Colombia. Materiales y métodos. Estudio transversal realizado en 99 pacientes con TB y mediciones de CA-125 (U/mL) antes de iniciar tratamiento para TB atendidos en la Fundación Valle del Lili entre 2007 y 2016. Los casos se clasificaron como TB pulmonar (TBP) (n=33) o TBEP (n=66). Se realizó un análisis bivariado para comparar las variables de interés (datos sociodemográficos, clínicos y de laboratorio) entre los grupos TBEP y TBP, y para determinar diferencias entre pacientes con resultados positivos y negativos para CA-125 en relación con la mortalidad. Resultados. Se reportaron niveles elevados de CA-125 en 55 pacientes (55.56%). Los resultados positivos para CA-125 (>35 U/mL) fueron más frecuentes en el grupo TBEP (59.0% vs. 48.48%). En el grupo TBEP se encontraron resultados positivos en los casos de serositis tuberculosa (100% TB pericárdica, 68.42% TB peritoneal y 66.66% TB pleural), y en 66.66% de los casos de TB miliar y vertebral, respectivamente. Además, se reportaron 15 muertes relacionadas con la infección por TB en el período de seguimiento (n=66), de las cuales 13 tuvieron un resultado positivo para CA-125, encontrando una diferencia significativa con aquellas con resultados negativos (p=0.021); sin embargo, el 47.05% de los pacientes supervivientes también tuvo un resultado positivo. Conclusiones: La mayoría de los casos de serositis tuberculosa, TB miliar y vertebral tuvieron niveles elevados de CA-125 antes de iniciar el tratamiento de la TB. El CA-125 puede resultar útil para fines de pronóstico en estos pacientes.

Advancing pediatric palliative care in a low-middle income country: an implementation study, a challenging but not impossible task.

BACKGROUND: The disparities in access to pediatric palliative care and pain management in Latin America remains an unaddressed global health issue. Efforts to improve the development of Palliative Care (PC) provision have traditionally targeted services for adults, leaving the pediatric population unaddressed. Examples of such services are scarce and should be portrayed in scientific literature to inform decision-makers and service providers on models of care available to tackle the burden of Pediatric Palliative Care (PPC) in Low-and middle-income countries (LMIC). The purpose of this study is to describe the implementation of a pediatric palliative care program, "Taking Care of You" (TCY), in a tertiary care, university hospital in Cali, Colombia. METHODS: A program's database was built with children between 0 to 18 years old and their families, from year 2017 to 2019. Descriptive analysis was carried out to evaluate the impact of the program and service delivery. A theory-based method was directed to describe the PPC program, according to the implementation of self-designed taxonomy, mapping theoretical levels and domains. Clinical outcomes in patients were included in the analysis. RESULTS: Since 2017 the program has provided PPC services to 1.965 children. Most of them had an oncologic diagnosis and were referred from hospitalization services (53%). The number of ambulatory patients increased by 80% every trimester between 2017 and 2018. A 50% increase was reported in hospitalization, emergency, and intensive care units during the same time period. CONCLUSIONS: The program addressed a gap in the provision of PPC to children in Cali. It shows effective strategies used to implement a PPC program and how the referral times, coordination of care, communication with other hospital services were improved while providing compassionate/holistic care to children with life-limiting and threatening diseases and in end-of-life. The implementation of this program has required the onset of specific strategies and arrangements to promote awareness and education proving it a hard task, yet not impossible.

Una aproximación a la tuberculosis resistente a isoniazida: ¿un problema subestimado en Colombia? / An appraisal of the isoniazid resistant tuberculosis in Colombia: a underestimated problem in Colombia?

Objetivo: Describir las características clínicas y desenlaces al tratamiento de los pacientes con tuberculosis resistente a isoniazida (Hr-TB) en una institución del suroccidente colombiano. Materiales y métodos: Se realizó un estudio observacional retrospectivo. Se incluyeron pacientes con confirmación diagnóstica, aislamiento microbiológico, pruebas de susceptibilidad a fármacos y evidencia de Hr-TB. Resultados: Se incluyeron 32 pacientes con Hr-TB entre 2006-2018 que corresponden al 6% (32/528) de resistencia del total de casos. El 78% (n=25) fueron casos nuevos, resistencia primaria, y el 22% (n=7) previamente tratados, resistencia adquirida. La comorbilidad más frecuente fue infección por VIH (n=9). El patrón de Hr-TB mostró en 23 (72%) casos con alto nivel, 4 (12%) de bajo nivel y 5 (16%) con bajo y alto nivel. El análisis de resultados al tratamiento se realizó a 22 pacientes, presentando el 50% cura, el 41% tratamiento completo y 9% muerte relacionada con la tuberculosis. Conclusiones: La Hr-TB predomina en los casos nuevos, lo que supone un obstáculo al tratamiento donde no se realizan las pruebas de susceptibilidad de forma rutinaria.

Objective: To describe the clinical characteristics and outcomes to the treatment of patients with isoniazid-resistant tuberculosis (Hr-TB) in an institution in southwest Colombia. Materials and methods: A retrospective observational study was conducted. Patients with diagnostic confirmation, microbiological isolation, drug susceptibility tests, and evidence of Hr-TB were included. Results: Thirty-two patients with Hr-TB were included between 2006-2018, corresponding to 6% (32/528) of resistance in total cases. 78% were new cases, primary resistance, and 22% previously treated, acquired resistance. The most frequent comorbidity was HIV infection (n = 9). The pattern of Hr-TB showed in 23 (72%) cases with high level, 4 (12%) of low level and 5 (16%) with low and high level. The analysis of treatment results was performed on 22 patients, presenting 50% cure, 41% completed treatment, and 9% death related to tuberculosis. Conclusions: Hr-TB predominates in new cases, which is an obstacle to treatment where susceptibility tests are not performed routinely.

Latent tuberculosis infection in patients with autoimmune diseases treated with Infliximab and Etanercept / Infección latente por tuberculosis en pacientes con enfermedades autoinmunes que reciben tratamiento con Infliximab y Etanercept

Introduction: Latent tuberculosis infection (LTI) in patients receiving biological therapies is a reality, but this has not been studied in depth in Colombia. Objective: To determine the prevalence of LTI in patients with autoimmune diseases receiving treatment with Infliximab / Etanercept in a referral health center in Cali, Colombia, between the years 2011-2017. Methodology: A retrospective observational study was conducted. We reviewed the 'Registry of patients exposed to tumor necrosis factor-alpha (TNF-α) antagonist drugs in Fundación Valle del Lili'. Patients diagnosed with a chronic inflammatory disease were included who received treatment with Infliximab, Etanercept, or both and followed at least two years. Design: Retrospective observational study. We reviewed the 'Registry of patients exposed to tumor necrosis factor alpha (TNF-α) antagonist drugs in Fundación Valle del Lili'. Patients diagnosed with a chronic inflammatory disease were included who received treatment with Infliximab, Etanercept or both and followed at least a period of 2 years. Results: We included 82 patients; the median age was 47.5 years (IQR=28-60 years), 76% were female, 2% had intimate contact with tuberculosis, 15% were older than 65 years. The 56% had a diagnosis of rheumatoid arthritis as an indication of therapy, and 2% presented infection by hepatitis C virus. The median PPD was 12 mm (IQR=10-17 mm). The prevalence was 3.8% for LTI. Conclusion: The conversion to LTI shows an important prevalence, so it is convenient to perform a routine follow-up of patients receiving therapies with Infliximab and Etanercept.

Introducción: La infección latente por tuberculosis (ILTB) en pacientes que reciben terapias biológicas es una realidad, pero esto no ha sido estudiado a profundidad en Colombia. Objectivo: Determinar la prevalencia de ILTB en pacientes con enfermedades autoinmunes que reciben tratamiento con Infliximab/Etanercept en una institución de salud de referencia de Cali, Colombia, entre los años 2011-2017. Metodología: Se realizó un estudio observacional retrospectivo. Se revisó el 'Registro de pacientes expuestos a fármacos antagonistas del factor de necrosis tumoral alfa (anti TNF-α) en la Fundación Valle del Lili entre los años 2011 y 2017'. Se incluyeron pacientes con diagnóstico de una enfermedad inflamatoria crónica quienes recibieron tratamiento con Infliximab, Etanercept o ambos y con seguimiento al menos un periodo de 2 años. Resultados: Se incluyeron 82 pacientes; la mediana de edad fue 47,5 años RIC (28-60 años), el 76% fue de sexo femenino, el 2% tuvo contacto íntimo con TB, el 15% era mayor de 65 años. El 56% tenía diagnóstico de artritis reumatoide como indicación de terapia y el 2% presentaba infección por HCV. La mediana de PPD fue 12 mm RIC (10-17 mm). La prevalencia fue del 3,8% para ILTB. Conclusiones: La conversión a ILTB muestra una prevalencia importante, por lo que resulta conveniente la realización de un seguimiento rutinario a los pacientes que reciben terapias con Infliximab y Etanercept.

Estudio morfométrico de los bronquios principales y del bronquio intermedio en una muestra cadavérica colombiana / Morphometric study of the main bronchi and the intermediate bronchus in a Colombian cadaveric sample

Conocer la morfometría en longitud, circunferencia y angulación de los bronquios principales y del bronquio intermedio pueden ser datos relevantes en procedimientos radiológicos, quirúrgicos e inclusive en eventos que amenazan la vida como la broncoaspiración. Existe poca evidencia acerca de la morfometría de los bronquios principales y del bronquio intermedio, es por ello que el presente estudio tuvo como objetivo describir la morfometría de los bronquios principales y del bronquio intermedio en una muestra de población cadavérica colombiana. Se realizó un estudio descriptivo donde se seleccionaron 29 especímenes de Cali, Colombia; 11 correspondieron a cadáveres y 18 a órganos aislados del tracto respiratorio inferior; se incluyeron los cadáveres con las estructuras debidamente disecadas y se excluyeron las muestras con estructuras anatómicas ausentes o dañadas y que afectaran la realización de las mediciones. La media de longitud del bronquio principal derecho fue de 1,69 cm IC 95 % (1,51 - 1,87) la media de la longitud del bronquio intermedio fue de IC 95 % 2,89 cm (2,66 - 3,12), la media de longitud del bronquio principal izquierdo fue de 3,34 cm IC 95 % (3,01 - 3,68); el ángulo interbronquial tiene una media de 80,17º IC 95 % (72,87 - 87,48). Las mediciones del bronquio principal derecho concuerdan con las reportadas en la literatura, lo contrario ocurre con el bronquio principal izquierdo; la medición del ángulo interbronquial muestra diferencias a la reportada por la literatura. Este estudio muestra que a pesar de que existen nomenclaturas y consensos internacionales, estos no han sido implementados correctamente por los profesionales de la salud y el término de bronquio intermedio es utilizado en la práctica diaria, por lo que se hace necesario que las Sociedades de Anatomía y Morfología vuelvan a discutir su importancia y reconocimiento en la nomenclatura.

Knowing morphometry in length, circumference and angulation of the main bronchi and the intermediate bronchus can be relevant data in radiological, surgical procedures and even in life-threatening events such as bronchoaspiration. Evidence is scarce about the morphometry of the main bronchi and the intermediate bronchus, that is why the present study aimed to describe the morphometry of the main bronchi and the intermediate bronchus in a Colombian cadaveric population sample. A descriptive study was carried out where 29 specimens were selected from Cali, Colombia; 11 corresponded to cadavers and 18 to organs isolated from the lower respiratory tract; cadavers with duly dissected structures were included and samples with anatomical structures that were absent or damaged, and that affected the performance of the measurements were excluded. Descriptive statistics was used to analyze the data. The mean length of the right main bronchus was 1.69 cm 95 % CI (1.51-1.87), the mean length of the intermediate bronchus was 2.89 cm 95 % CI (2,663,12), the mean length of the left main bronchus was 3.34 cm 95 % CI (3-3.68); the interbronchial angle had an average of 80.17º 95 % CI (72.87-87.48). The measurements of the right main bronchus agree with those reported in the literature, the opposite occurs with the left main bronchus; interbronchial angle measurement showed differences to that reported by the literature. This study shows that although there are international nomenclatures and consensus, these have not been implemented correctly by health professionals and the term intermediate bronchus is used in daily practice, it is therefore necessary that the Societies of Anatomy and Morphology again discuss their importance and recognition in the nomenclature.

Overcoming Barriers in the Implementation of Programs for Breast and Cervical Cancers in Cali, Colombia: A Pilot Model.

Breast and cervical cancers are leading causes of mortality among women in Latin America. Colombia has universal health care and a government-sponsored 10-year cancer control plan focused on prevention, early detection, and treatment. However, many administrative and social barriers have hindered its success, and a majority of patients are diagnosed at a late stage. Established in 2012, Partners for Cancer Care and Prevention (PFCCAP) works to decrease the burden of these cancers by mitigating the obstacles women face during their cancer diagnosis and treatment. Through community outreach meetings with medical personnel, hospital directors, and government officials, PFCCAP identified major barriers, including lack of trained health care personnel, few centers with adequate screening equipment, and a fragmented health system with significant administrative delays and poor continuity of care. Its solution included monthly teleconferences, biannual on-site training, quality control programs, and improved access to screening equipment. PFCCAP also initiated a patient navigation project. After implementation of the PFCCAP plan of action, from 2012 to 2018, the average time from initial consult to biopsy decreased from 65 to 20 days; from biopsy to diagnosis, 33 to 4 days; and from diagnosis to surgery, 121 to 60 days. To date, more than 1,500 women have benefited from this initiative, which has expanded to other regions. Overall, PFCCAP is creating centers of excellence in strategically located hospitals and promoting the implementation of national guidelines. Although several barriers still exist, PFCCAP is helping to implement an efficient health care model that can be replicated in other underserved populations.