Outcomes and challenges treating pediatric acute myeloid leukemia: a retrospective analysis of patients treated at the Fundación Valle del Lili between 2011 and 2020.

INTRODUCTION: Acute myeloid leukemia is a challenging disease, due to a poor prognosis in developing countries. Herein, we aim to describe the clinical characteristics and outcomes after chemotherapy and transplantation. METHODS: A retrospective analytic observational study was performed with patients under 18 years of age with newly diagnosed acute myeloid leukemia treated at a referral center in Colombia. Two groups were compared: induction therapy (IT) and induction therapy plus consolidation (IT + C). The survival analysis was performed using the Kaplan-Meier method. RESULTS: We analyzed 34 patients diagnosed with acute myeloid leukemia; 20 received hematopoietic stem cell transplantation. Most were French-American-British (FAB) classification types M1, M5 and M0. The transplantation was haploidentical in 65%, conditioning was myeloablative in 67% and graft-versus-host disease prophylaxis was performed with post-transplant cyclophosphamide in 70%. Overall, the 5-year survival was 52% and the overall 5-year survival in the transplanted group was 80%. There were 16 deaths; in the IT group, n = 12, and in the IT + C group, n = 4. In the former, the main cause of death was septic shock and in the latter, it was relapse. CONCLUSION: Transplantation is a safe option. Receiving treatment and supportive measures in hematopoietic stem cell transplantation units is necessary to avoid infections, especially during induction cycles.

APOL1 Gene Variants and Risk for Cardiovascular Disease.

INTRODUCTION: The association of APOL1 risk variants with cardiovascular risk and cardiovascular disease (CVD) in observational and clinical trials has had inconsistent results. We aim to assess the relationship between the presence of APOL1 risk variants and the CVD risk in Afro-descendant patients with end-stage renal disease (ESRD). METHODS: We performed an observational, cross-sectional study of Afro-descendant adult patients with ESRD who were on the waitlist for a kidney transplant. Associations of APOL1 genotypes (high-risk [HR] = 2 alleles; low-risk [LR] = 0 or 1 allele) with cardiovascular risk were the primary clinical endpoint. The relation was evaluated using univariate and multivariate analysis. RESULTS: We enrolled a total of 102 patients with ESRD; 37% (38 patients) had APOL1 HR status with two alleles in homozygous (G1/G1 = 21 and G2/G2 = 3) or compound heterozygote (G1/G2 = 14) form and 63% (64 patients) had APOL1 LR status. No significant association was found between HR APOL1 genotypes and high cardiovascular risk (in adjusted Colombia Framingham Risk Score). APOL1 HR versus LR variants were not independently associated with left ventricular hypertrophy or systolic dysfunction. No cardiovascular deaths occurred during the follow-up. CONCLUSION: In Afro-descendent patients with ESRD, APOL1 HR status is not associated with the increase in cardiovascular risk profile and metabolic disturbances.

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.

COVID-19 en receptores de trasplante renal: la experiencia inicial en Colombia

Contexto: los pacientes con trasplante de riñón parecen tener un riesgo particularmente alto de enfermedad grave por COVID-19 debido a la inmunosupresión y la presencia de comorbilidades. Objetivo: describir las características clínicas, paraclínicas y desenlaces de los pacientes trasplantados renales que presentan infección por SARS-COV-2 en un hospital de cuarto nivel en Cali, Colombia. Metodología: realizamos un estudio observacional de receptores de trasplante renal con infección por SARS-CoV-2 ingresados ​​en la Fundación Valle del Lili, de junio a diciembre del 2020. Para ser elegibles en el estudio, los pacientes debían presentar síntomas compatibles, RT-PCR positiva y manejo hospitalario. Se excluyó a los pacientes asintomáticos. Resultados: inscribimos a un total de 50 pacientes, donde el 64 % eran hombres y la edad media fue de 53,5 años (rango 46-60). Las comorbilidades fueron: 36 (70 %) con hipertensión, 16 (32 %) con diabetes mellitus y 5 (10 %) con obesidad y los regímenes inmunosupresores más comunes fueron: tacrolimus, micofenolato y prednisona. La mediana de tiempo desde el inicio de los síntomas hasta la RT-PCR positiva fue de siete días. Los síntomas iniciales más comunes fueron fiebre (64 %), fatiga (58%), tos (44%) y disnea (36%). Los niveles basales de proteína C reactiva (PCR) fueron de 6,43 mg/dl (3,25-11,22), la mediana del recuento de linfocitos fue de 785 mm3/uL (550-1230), el dímero D basal fue de 0,767 ug/ml (0,484-1153,5) y el nivel medio de ferritina fue de 1011 ng/ml (670-2145). El 40 % desarrolló lesión renal aguda (20 pacientes), de los cuales 11 pacientes necesitaron terapia de remplazo renal, 6 de los pacientes fallecieron (12 %), 4/6 por insuficiencia multiorgánica relacionada con la sepsis y 2/6 por el síndrome de dificultad respiratoria agudo (SDRA). Conclusiones: las complicaciones mayores como la lesión renal aguda, el síndrome de dificultad respiratoria aguda y la mortalidad relacionada con la infección por COVID-19 observadas en nuestro estudio son significativas, pero menos frecuentes que las reportadas en otros países.

Background: Patients with kidney transplants seem to be at particularly high risk for severe COVID19 disease due to their impaired immune responses and comorbidities. Purpose: This study aims to describe kidney transplant patients' clinical characteristics and outcomes with SARSCOV-2 infection in a fourth-level hospital in Cali, Colombia. Methodology: We performed an observational study of kidney transplant recipients with SARS-CoV2 infection admitted at Fundación Valle del Lili from June to December 2020. To be eligible for this study, patients have symptoms compatible, a positive RT-PCR and inpatient management. Asymptomatic patients were excluded. Results: We enrolled a total of 50 patients. 64% were male, and the median age was 53.5 years (range 46-60). The comorbidities were 36 (70%) hypertension, 16 (32%) diabetes mellitus, 5 (10%) obesity. The most common immunosuppressive regimen was tacrolimus, mycophenolate and prednisone. The median time from symptoms onset to the positive RT-PCR was 7 days. The most common initial symptom was fever (64%), and fatigue (58%), cough (44%) and dyspnea (36%). Baseline levels of CRP was 6.43 mg/dL (3.25-11.22). The median lymphocyte count was 785 mm3/uL (550-1230). Baseline D-Dimer was 0.767 ug/ml (0.484-1153.5), ferritin median level was 1011ng/ml (670-2145). Six of the patients died (12%), 4/6 were by sepsis-related multi-organ failure and 2/6 were by ARDS. Conclusions: Major complications such as acute kidney injury, acute respiratory distress syndrome and mortality related to COVID-19 infection observed in our study are lower than those reported in other countries.

Impact of health-related quality of life on pediatric patients who underwent hematopoietic stem cell transplantation in a Colombian institution / Impacto de la calidad de vida relacionada a la salud en pacientes pediátricos con trasplante de progenitores hematopoyéticos en una institución colombiana.

Introduction: Hematopoietic stem cell transplantation is the curative option for some diseases and is increasing patient survival. The health-related quality of life in these patients is not systematically evaluated. Objectives: The present study sought to describe the health-related quality of life and complications in children who underwent hematopoietic stem cell transplantation. Materials and methods: A cross-sectional study was conducted on pediatric transplanted survivors. Health-related quality of life was measured using the KIDSCREEN-27 scale and Short Form-12 (SF-12) in patients between 8 and 14 years of age and those over 14 years, respectively. Statistical analysis was performed using STATA 12 software. We used the Rasch model person parameter estimates translated into T-values to score the questionnaire. Results: A total of 42 children answered the questionnaires. The most frequent adverse events were chronic graft Vs. host disease and endocrine complications. According to European norm data in the KIDSCREEN-12 scale, scores for the school dimension and social and peer support were below the 50th. percentile. The group administered immunosuppressants had lower scores on the physical component of the SF-12™ scale. Conclusions: In general, the KIDSCREEN-27 does appear to suggest some quality-of-life deficit in younger children. The scales showed reliability in this population.

Introducción. El trasplante de células madre hematopoyéticas es la opción curativa para algunas enfermedades y está aumentando el tiempo de supervivencia de los pacientes. La calidad de vida relacionada con la salud en estos pacientes no se evalúa de manera sistemática. Objetivos. Describir la calidad de vida relacionada con la salud y las complicaciones en niños con trasplante de células madre hematopoyéticas. Materiales y métodos. Es un estudio transversal en pacientes pediátricos sobrevivientes al trasplante. Se midió la calidad de vida relacionada con la salud, utilizando el cuestionario KIDSCREEN-27 en pacientes entre 8 y 14 años y la SF-12™ (Short Form-12) en pacientes mayores de 14 años. El análisis estadístico se realizó en el software Stata 12. Utilizamos el modelo de Rasch, trasladando estimación de parámetros a valores t para obtener el resultado de los cuestionarios. Resultados. En total, 42 pacientes respondieron alguno de los cuestionarios. Los eventos adversos más frecuentes fueron "enfermedad crónica de injerto Vs. contra huésped" y "complicaciones endocrinas". De acuerdo con la normalidad de datos del KIDSCREEN-27, los puntajes de las dimensiones "ambiente escolar" y "soporte social y pares" fueron inferiores al percentil 50. En el cuestionario SF-12™, el grupo que utilizaba inmunosupresores tuvo un menor puntaje en el componente físico. Conclusiones. En general, los resultados del KIDSCREEN-27 sugieren un cierto déficit de calidad de vida en pacientes entre 8 y 14 años. Los cuestionarios mostraron confiabilidad en la muestra.

Impacto de la calidad de vida relacionada a la salud en pacientes pediátricos con trasplante de progenitores hematopoyéticos en una institución colombiana / Impact of health-related quality of life on pediatric patients who underwent hematopoietic stem cell transplantation in a Colombian institution

Introducción. El trasplante de células madre hematopoyéticas es la opción curativa para algunas enfermedades y está aumentando el tiempo de supervivencia de los pacientes. La calidad de vida relacionada con la salud en estos pacientes no se evalúa de manera sistemática. Objetivos. Describir la calidad de vida relacionada con la salud y las complicaciones en niños con trasplante de células madre hematopoyéticas. Materiales y métodos. Es un estudio transversal en pacientes pediátricos sobrevivientes al trasplante. Se midió la calidad de vida relacionada con la salud, utilizando el cuestionario KIDSCREEN-27 en pacientes entre 8 y 14 años y la SF-12™ (Short Form-12) en pacientes mayores de 14 años. El análisis estadístico se realizó en el software Stata 12. Utilizamos el modelo de Rasch, trasladando estimación de parámetros a valores t para obtener el resultado de los cuestionarios. Resultados. En total, 42 pacientes respondieron alguno de los cuestionarios. Los eventos adversos más frecuentes fueron "enfermedad crónica de injerto Vs. contra huésped" y "complicaciones endocrinas". De acuerdo con la normalidad de datos del KIDSCREEN-27, los puntajes de las dimensiones "ambiente escolar" y "soporte social y pares" fueron inferiores al percentil 50. En el cuestionario SF-12™, el grupo que utilizaba inmunosupresores tuvo un menor puntaje en el componente físico. Conclusiones. En general, los resultados del KIDSCREEN-27 sugieren un cierto déficit de calidad de vida en pacientes entre 8 y 14 años. Los cuestionarios mostraron confiabilidad en la muestra.

Introduction: Hematopoietic stem cell transplantation is the curative option for some diseases and is increasing patient survival. The health-related quality of life in these patients is not systematically evaluated. Objectives: The present study sought to describe the health-related quality of life and complications in children who underwent hematopoietic stem cell transplantation. Materials and methods: A cross-sectional study was conducted on pediatric transplanted survivors. Health-related quality of life was measured using the KIDSCREEN-27 scale and Short Form-12 (SF-12) in patients between 8 and 14 years of age and those over 14 years, respectively. Statistical analysis was performed using STATA 12 software. We used the Rasch model person parameter estimates translated into T-values to score the questionnaire. Results: A total of 42 children answered the questionnaires. The most frequent adverse events were chronic graft Vs. host disease and endocrine complications. According to European norm data in the KIDSCREEN-12 scale, scores for the school dimension and social and peer support were below the 50th. percentile. The group administered immunosuppressants had lower scores on the physical component of the SF-12™ scale. Conclusions: In general, the KIDSCREEN-27 does appear to suggest some quality-of-life deficit in younger children. The scales showed reliability in this population.

Treatment of post-transplant recurrent FSGS in children using plasmapheresis and augmentation of immunosuppression.

BACKGROUND: Up to 60% of pediatric renal transplant recipients with end-stage renal disease due to primary focal and segmental glomerulosclerosis (FSGS) may develop recurrent disease. Such recurrence is associated with poor prognosis if no remission is achieved. We report a single center experience with a protocol based on plasmapheresis and increased immunosuppression that resulted in a high long-lived remission rate. METHODS: This retrospective cohort study included consecutive pediatric renal transplant patients with recurrent FSGS treated with a standardized protocol using plasmapheresis and cyclophosphamide to supplement usual post-transplant immunosuppression with calcineurin inhibitors and steroids. Relapse was defined as urinary protein/creatinine ratio > 1.0 g/g and remission as < 0.5 g/g. RESULTS: Seventeen patients with FSGS recurrence post-transplant were treated. All had therapy resistant FSGS in native kidneys and had been on dialysis from 4 to 10 years. Of the 17, one died perioperatively from a pulmonary thromboembolism. Fifteen others achieved a complete remission within 3 months of treatment for FSGS recurrence. After a median follow-up period of 4 years, there were no recurrences of significant proteinuria. One patient achieved remission with rituximab. CONCLUSION: The addition of plasmapheresis and cyclophosphamide to a calcineurin- and steroid-based immunosuppression regime was highly successful in inducing high remission rates with recurrent FSGS. Prospective trials are needed to evaluate further the efficacy of increased immunosuppression along with plasmapheresis in this setting.

Prophylaxis for invasive fungal infection in pediatric patients with allogeneic hematopoietic stem cell transplantation.

Background: Antifungal prophylaxis is recommended for hematopoietic stem cell transplantation (HSCT) to decrease the incidence of invasive fungal infections (IFI). This study aimed to compare the two groups of antifungal prophylaxis in pediatric patients undergoing allogeneic HSCT. Methods: This observational, analytic, retrospective cohort study compared the incidence of IFI with antifungal prophylaxis with voriconazole vs. other antifungals in the first 100 days after allogeneic HSCT in patients aged <18 years between 2012 and 2018. The statistical analysis included univariate and multivariate analyses and determination of the cumulative incidence of invasive fungal infection by the Kaplan‒Meier method using STATA 14 statistical software. Results: A total of 139 allogeneic HSCT were performed. The principal diagnosis was acute leukemia (63%). The 75% had haploidentical donors, and 50% used an antifungal in the month before transplantation. Voriconazole (69%) was the most frequently administered antifungal prophylaxis. The cumulative incidence of IFI was 5% (7 cases). Of the patients with IFIs, four began prophylaxis with voriconazole, one with caspofungin, and one with fluconazole. Additionally, six were possible cases, one was proven (Candida parapsilosis), and 1/7 died. Conclusion: There were no differences in the incidence of IFI between patients who received prophylaxis with voriconazole and other antifungal agents.

Corrigendum to "Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country".

[This corrects the article DOI: 10.1155/2019/7076326.].

Risk Factors Related to New-Onset Diabetes after Renal Transplantation in Patients of a High Complexity University Hospital in Colombia, 20 Years of Experience.

INTRODUCTION: New-onset diabetes after transplantation (NODAT) is associated with immunosuppression. Its complications can negatively influence patients' quality of life, which is why it is important to study the associated risk factors and expand the possible therapies in this particular group of patients. Materials and methods. Case-control study nested in a retrospective cohort. It included patients who received kidney transplantation at the high complexity University Hospital Fundación Valle del Lili in Cali, Colombia, between 1995 and 2014. Two controls were assigned for each case, depending on the type of donor and the date of the surgery. Information was collected from clinical records and the institutional TRENAL registry. We carried out a descriptive analysis of the selected variables and identified the risk factors with conditional logistic regression. RESULTS: 122 cases were identified to which 224 controls were assigned. The median age was 44 years (IQR: 34-55), and 54% were men. Having >50 years of age at the time of transplantation (OR: 3.18, 95% CI: 1.6-6.3, p = 0.001), body mass index >30 kg/m2 (OR: 3.6, 95% CI: 1.3-9.7, p = 0.010) and being afro-descendant (OR: 2.74, 95% CI: 1.1-6.5, p = 0.023) were identified as risk factors for the development of NODAT. Pretransplant fasting plasma glucose >100 mg/dl (OR: 2.9, 95% CI: 1.4-6.4, p = 0.005) and serum triglycerides >200 mg/dl (OR: 2.5, 95% CI: 1.4-4.4, p = 0.002) were also reported as independent risk factors. CONCLUSION: We ratify some risk factors for the development of this important disease, which include certain modifiable characteristics. Interventions aimed at changes in lifestyle could be established in a timely manner before transplant surgery.

Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia.

PURPOSE: To characterize the pediatric population with inborn errors of immunity (IEI) that was treated with hematopoietic stem cell transplantation (HSCT) in three reference centers in Colombia. What have been the characteristics and outcomes of hematopoietic stem cell transplantation in pediatric patients with inborn errors of immunity in three reference care centers in Colombia between 2007 and 2018? METHODS: We conducted an observational, retrospective cohort study in children with a diagnosis of IEI who underwent HSCT between 2007 and 2018. RESULTS: Forty-seven patients were identified, and 5 were re-transplanted. Sixty-eight percent were male. The median age at diagnosis was 0.6 years, and for HSCT was 1.4 years. The most common diseases were chronic granulomatous disease (38%) followed by severe combined immune deficiencies (19%) and hemophagocytic lymphohistiocytosis (15%). Cord blood donors were the most used source of HSCT (44%). T cell-replete grafts from haploidentical donors using post-transplantation cyclophosphamide represent 37% of the cohort. All patients received conditioning, 62% with a non-myeloablative regimen. Calcineurin inhibitors were the main graft-versus-host disease prophylaxis (63.8%). Acute graft-versus-host disease developed in 35% of the total patients. The most frequent post-transplant infections were viral and fungal infections. The 1-year overall survival rates for the patients who received HSCT from identical, haploidentical, and cord sources were 80%, 72%, and 63%, respectively. The 5-year overall survival was 63%. CONCLUSIONS: HSCT is a curative treatment option for some IEI and can be performed with any donor type. Early and timely treatment in referral centers can improve survival.

Desenlace de los pacientes pediátricos con falla medular tratados en un centro de alta complejidad / Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center

INTRODUCCIÓN: Los síndromes de falla medular (SFM) son trastornos infrecuentes, con una incidencia anual de 2-4 casos por millón. Las opciones de tratamiento incluyen terapia de inmunosupresión (TIS) y restaura ción de la hematopoyesis con trasplante de progenitores hematopoyéticas (TPH). OBJETIVO: Analizar los desenlaces de pacientes pediátricos diagnosticados con SFM tratados en una institución de alta complejidad. PACIENTES Y MÉTODO: Estudio retrospectivo de pacientes pediátricos con diagnóstico de SFM que consultaron a la Fundación Valle del Lili, Cali. Se realizo análisis estadístico descriptivo según SFM adquirida (SFMA) y SFM congénita (SFMC). Los desenlaces incluyeron: tratamiento, complicaciones, supervivencia global (SG) en los trasplantados, calculada con el método Kaplan Meier. RESULTADOS: Se incluyeron 24 pacientes con SFM, edad 6,5 ± 4 años, 50% mujeres. El 58% fue ron SFMC, 9 con anemia de Fanconi, 2 disqueratosis congénita, 2 trombocitopenia amegacariocítica congénita, uno anemia Diamond-Blackfan. Doce pacientes con TPH tuvieron SG a 5 años de 83%. SFMA correspondió al 42%, 6 recibieron TIS-TPH, 3 TIS y 1 TPH, la SG del grupo con TIS-TPH fue 86%. Seis pacientes fallecieron, 4/6 relacionadas con infección. CONCLUSIONES: En esta serie fue mayor el número de casos con SFMC. La SG de los pacientes llevados a TPH es comparable con la reportada en estudios recientes. La causa de muerte predominante fue infecciosa que también se ha reportado previamente. El tratamiento instaurado en los pacientes de esta serie mostró resultados favorables en un centro de alta complejidad en un país latinoamericano.

INTRODUCTION: Bone marrow failure (BMF) syndromes are rare disorders with an annual incidence of 2-4 cases per million. Treatment options include immunosuppressive therapy (IST) and hematopoietic stem cell transplantation (HSCT). OBJECTIVE: To analyze the outcomes of pediatric patients diagnosed with BMF treated in a tertiary care center. PATIENTS AND METHODP: Retrospective study of pediatric patients diagnosed with BMF who consulted at Fundación Valle de Lili, Cali. Descriptive statistical analysis was performed according to Acquired BMF (ABMF) and Inherited BMF (IBMF). The outcomes include treatment, complications, overall survival (OS) in transplant patients, calculated using the Kaplan Meier method. RESULTS: We included 24 patients with BMF, average age 6.5 ± 4 years, and 50% were women. 58% presented IBMF, 9 with Fanconi anemia (FA), 2 dyskeratosis congenita, 2 congenital amegakaryocytic thrombocytopenia, and 1 presented Diamond-Blackfan anemia. 12 patients treated with HSCT had a 5-year OS of 83%. ABMF represented 42%. 6 patients received IST-HSCT, 3 received IST, and 1 received HSCT. The OS of the IST-HSCT group was 86%. Six patients died, four of them related to infection. CONCLUSIONS: In this series, there was a higher number of cases with IBMF. The OS of patients treated with HSCT is similar to that reported in recent studies. The most frequent cause of death was of infectious origin which has also been previously reported. The treatment esta blished in the patients showed favorable results in a Latin American tertiary care center.

Haploidentical stem cell transplant with post-transplantation cyclophosphamide and mini-dose methotrexate in children.

BACKGROUND: Haploidentical stem cell transplantation (haplo-SCT) is an option for patients without human leukocyte antigen-matched related or unrelated donor. Post-transplantation cyclophosphamide (PTCy) is an effective method of graft versus host disease (GVHD) prophylaxis and permits the use of T-cell replete grafts in settings were ex vivo manipulation is not feasible. METHODS: A retrospective study among patients younger than 18 years, with a history of hematologic malignancies who underwent haplo-SCT between 2012 and 2016. All patients received a preparative regimen of fludarabine, busulfan, and 400 cGy total body irradiation or melphalan. Post-transplant GvHD prophylaxis consisted either of PTCy (50 mg/kg on Days + 3 and + 4) and cyclosporine (CSA) plus mycophenolate (MMF) (15 mg/kg/dose, thrice daily, per os), or mini-dose methotrexate (MTX; 5 mg/m2 dose) on Days + 5, +7, +10, and + 15. RESULTS: A total of 52 children were included, whose median age was 9 years (interquartile range, 4.9-14; range, 1.2-17 years), and 63% were males. The most common complications were cytomegalovirus reactivation (57%) and hemorrhagic cystitis (36%). The acute GVHD prophylaxis was PTCy, CSA, and mini-dose MTX in 42 (81%) patients, and 10 (19%) patients received PTCy, CSA, and MMF. The cumulative incidence of acute GvHD II-IV, acute GvHD III-IV, and chronic GvHD were 42%, 8.5%, and 19%, respectively. Grades I-IV acute GvHD occurred in 100% of the patients who received prophylaxis with CSA and MMF, and 62% who received CSA and mini-dose MTX (p = .055). The transplant-related mortality at 100 days was 18%. The 5-year overall and event-free survival were 59% and 57%, respectively. CONCLUSIONS: Haplo-SCT with PT/Cy can be an available, safe, and feasible option for children with hematologic malignancies; meanwhile, the use of mini-dose of MTX was associated with lower rates of acute GVHD. However, our results require further support from prospective randomized studies to improve the efficacy of this prophylactic strategy.

Cytomegalovirus disease in patients with hematopoietic stem cell transplantation, experience over 8 years

Abstract Objective Cytomegalovirus infection and disease are significant causes of morbidity and mortality among patients with hematopoietic stem cell transplantation. The aim of this study was to assess the frequency of cytomegalovirus infection and characterize the patients who developed the disease. Methods A retrospective cohort study was performed among adult patients, recipients of allogeneic HSTC between 2008 and 2015. Taking into account the institutional protocol of prophylaxis infections in hematopoietic stem cell transplantation, patients received either preemptive therapy or prophylaxis with valganciclovir. Infection was defined as a positive pp65 antigenemia assay or PCR higher than 500 copies/mL. Disease was defined as viremia with evidence of end organ damage. Results Seventy patients were included, the median age was 36 years old (IQR 17-62). A total of 93% of the recipients had a positive serology. The Cytomegalovirus infection occurred in 59% of the patients. Eleven patients developed disease (16%), the most frequent manifestation being colitis, followed by pneumonitis and a single case of retinitis. There were no differences between the preemptive therapy or prophylaxis groups. The mean time of onset of the disease was day 94 post-transplant. Three patients developed disease with a viral load lower than 1000 copies/mL. Conclusion The incidence of cytomegalovirus infection after transplantation at our institution is high. It was found that the disease can occur with any level of viral load and is associated with high mortality.

Bacteremia in pediatric patients with hematopoietic stem cell transplantation.

BACKGROUND: This study aimed to describe the incidence, microbiological profile, and risk factors associated with bacteremia in pediatric patients with hematopoietic stem cell transplantation (HSCT). METHODS: A retrospective cohort study was performed on patients under 18 years old who underwent HSCT due to any indication, between January 2012 and January 2017. The patient data were collected from the first 100 days post-HSCT. Bacteremia was defined as the isolation of bacteria from at least one blood culture. The relation between bacteremia and associated risk factors was evaluated using univariate and multivariate analysis. RESULTS: We enrolled a total of 111 pediatric patients who received HSCT during the period of study. The total number of patients who developed at least one episode of bacteremia was 46 (41.4%), and the total number of bacteremia episodes was 62. Rectal swabs were performed in 44 patients to detect prior colonization and this showed that 25% of them were positive, the main pathogen isolated being carbapenem-resistant enterobacteriaceae. The Gram-negative bacteria cases accounted for 60% of 62 events. The main Gram-negative bacteria isolated were Klebsiella pneumoniae and Escherichia coli and the majority were resistant strains. The mortality rate on day +100 for the whole cohort was 18% (n=20). Regarding the patients with bacteremia, the mortality rate on day +100 was 30% (n=14), and the cause of death was related to infection in 10 of them. We did not find any statistically significant risk factor for the development of bacteremia. CONCLUSION: Bacteremia is common after HSCT, and there is a high frequency of resistant Gram-negative infections which is related to high mortality.

Cytomegalovirus disease in patients with hematopoietic stem cell transplantation, experience over 8 years.

OBJECTIVE: Cytomegalovirus infection and disease are significant causes of morbidity and mortality among patients with hematopoietic stem cell transplantation. The aim of this study was to assess the frequency of cytomegalovirus infection and characterize the patients who developed the disease. METHODS: A retrospective cohort study was performed among adult patients, recipients of allogeneic HSTC between 2008 and 2015. Taking into account the institutional protocol of prophylaxis infections in hematopoietic stem cell transplantation, patients received either preemptive therapy or prophylaxis with valganciclovir. Infection was defined as a positive pp65 antigenemia assay or PCR higher than 500copies/mL. Disease was defined as viremia with evidence of end organ damage. RESULTS: Seventy patients were included, the median age was 36 years old (IQR 17-62). A total of 93% of the recipients had a positive serology. The Cytomegalovirus infection occurred in 59% of the patients. Eleven patients developed disease (16%), the most frequent manifestation being colitis, followed by pneumonitis and a single case of retinitis. There were no differences between the preemptive therapy or prophylaxis groups. The mean time of onset of the disease was day 94 post-transplant. Three patients developed disease with a viral load lower than 1000copies/mL. CONCLUSION: The incidence of cytomegalovirus infection after transplantation at our institution is high. It was found that the disease can occur with any level of viral load and is associated with high mortality.

Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center. / Desenlace de los pacientes pediátricos con falla medular tratados en un centro de alta complejidad.

INTRODUCTION: Bone marrow failure (BMF) syndromes are rare disorders with an annual incidence of 2-4 cases per million. Treatment options include immunosuppressive therapy (IST) and hematopoietic stem cell transplantation (HSCT). OBJECTIVE: To analyze the outcomes of pediatric patients diagnosed with BMF treated in a tertiary care center. PATIENTS AND METHOD: Retrospective study of pediatric patients diagnosed with BMF who consulted at Fundación Valle de Lili, Cali. Descriptive statistical analysis was performed according to Acquired BMF (ABMF) and Inherited BMF (IBMF). The outcomes include treatment, complications, overall survival (OS) in transplant patients, calculated using the Kaplan Meier method. RESULTS: We included 24 patients with BMF, average age 6.5 ± 4 years, and 50% were women. 58% presented IBMF, 9 with Fanconi anemia (FA), 2 dyskeratosis congenita, 2 congenital amegakaryocytic thrombocytopenia, and 1 presented Diamond-Blackfan anemia. 12 patients treated with HSCT had a 5-year OS of 83%. ABMF represented 42%. 6 patients received IST-HSCT, 3 received IST, and 1 received HSCT. The OS of the IST-HSCT group was 86%. Six patients died, four of them related to infection. CONCLUSIONS: In this series, there was a higher number of cases with IBMF. The OS of patients treated with HSCT is similar to that reported in recent studies. The most frequent cause of death was of infectious origin which has also been previously reported. The treatment esta blished in the patients showed favorable results in a Latin American tertiary care center.

Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country.

INTRODUCTION: In Colombia, the genetic background of the populations was shaped by different levels of admixture between Natives, European, and Africans. Approximately 35.363 patients have diagnosed chronic kidney disease and according to population studies, 10.4% of these patients are Afro-descendant. We aim to assess the frequency of APOL1 variants G1 and G2 in Afro-descendant patients with ESRD treated at la Fundacion Valle del Lili University Hospital in Cali, Colombia. METHODS: This is an observational cross-sectional study. Afro-descendant patients with ESRD in waitlist or recipients of kidney transplant were evaluated. Clinical data were collected from the electronic medical records. Genotyping was carried out by amplification of the exon 7 of the APOL1 gene. For the identification of risk genotypes, the bioinformatics tool BLAST was used. RESULTS: We enrolled 102 participants. The frequency of APOL1 risk variants was 67.2%, in which 24.5% (n = 25) were G1 heterozygous and 5.8% (n = 6) were G2 heterozygous and 37% of the patients had high-risk status with two alleles in homozygous (G1/G1 = 21 and G2/G2 = 3) or compound heterozygote (G1/G2 = 14) form.

Trasplante autólogo de células madre hematopoyéticas en pacientes con diagnóstico de mieloma múltiple, experiencia en 9 años / Autologous stem cell transplant in patients with multiple myeloma, experience of 9 years

Resumen Objetivo: El mieloma múltiple representa la primera causa de trasplante autólogo de células madre hematopoyéticas (TCMH). El objetivo del presente trabajo es describir los resultados del TCMH en pacientes con diagnóstico de mieloma múltiple en la Fundación Valle del Lili. Materiales y métodos: Se realizó un estudio observacional, descriptivo de una cohorte retrospectiva, se incluyeron pacientes mayores de 18 años con TCMH autólogo tratados entre 2008 y 2016. Los desenlaces fueron: supervivencia global, supervivencia libre de progresión y la respuesta de la enfermedad postrasplante. Se realizó un análisis estadístico descriptivo y el análisis de supervivencia se hizo con el método Kaplan-Meier. Resultados: Durante el periodo de estudio se trasplantaron 103 pacientes. La mediana de la edad fue 57 años. El subtipo de inmunoglobulina secretada fue: 75% de IgG, 18% de IgA, 5% no secretor y 2% oligosecretor. El estadio Durie Salmon en la mayoría fue IIIA (43,7%). Previo al trasplante la mayoría de los pacientes estaba en muy buena respuesta parcial (31%), seguido por respuesta completa (25,2%) y respuesta parcial (19,4%). La supervivencia global y libre de progresión a 5 años fue de 71% y de 40%, respectivamente. Posterior al trasplante: el 33% de los pacientes estaba en muy buena respuesta parcial, el 25% en respuesta completa estricta, el 22% en respuesta completa, el 12% en respuesta parcial y el 8% en enfermedad progresiva o recaída. Conclusión: El TCMH autólogo es una estrategia que se asocia a buenas tasas de supervivencia, baja toxicidad y adecuada respuesta de la enfermedad postrasplante.

Abstract Objective: Multiple myeloma in Colombia is the one of the main reasons for autologous hematopoietic stem cell transplantation (HSCT). The aim of this study is to describe the results of the HSCT in adult patients diagnosed with multiple myeloma in the Fundación Valle del Lili. Materials and methods: An observational, descriptive study of a retrospective cohort was carried out. Patients older than 18 years with a diagnosis of multiple myeloma with autologous HSCT between 2008 and 2016 were included. The outcomes were overall survival, progression-free survival, and post-transplant disease response. A descriptive statistical analysis was carried out for all the variables considered in the analysis. The survival analysis was performed using the Kaplan-Meier method. Results: During the study period, transplants were performed on 103 patients with a diagnosis of multiple myeloma. The median age was 57 years. The subtype of secreted immunoglobulin was 75% IgG, 18% IgA, 5% non-secretor, and 2% oligo-secretor. The majority of patients were in Durie Salmon stage was IIIA (43.7%). Prior to transplantation 31% had a very good partial response, 25.2% complete response, 19.4% partial response, 10.7% progressive disease, 6.8% stable disease, 2.9% complete strict response, and in 3.9% of the patients the report of the disease status was not found. The 5-year overall survival was 71% (95% CI: 53-83) and progression-free survival was 40% (95% CI 25-54). After transplantation 33% of the patients were in very good partial response, 25% in strict complete response, 22% in complete response, 12% partial response, and 8% progressive disease or relapse. Conclusion: Autologous HSCT is a strategy that is associated with good survival rates, low toxicity, and an adequate post-transplant disease response.

Trasplante de células madre hematopoyéticas en pacientes pediátricos con diagnóstico de neoplasias mieloides, experiencia en 15 años / Haematopoietic stem cell transplantation in paediatric patients with myeloid malignancies; 15 years of experience

Resumen Objetivo: Describir la experiencia en términos de supervivencia y complicaciones de los pacientes llevados a trasplante de células madre hematopoyéticos (TCMH) en los últimos 15 años. Materiales y métodos: Se realizó un estudio descriptivo, tipo cohorte retrospectiva en el que se incluyeron pacientes menores de 18 años con diagnóstico de leucemia mieloide aguda (LMA), leucemia mieloide crónica (LMC) y síndrome mielodisplásico (SMD) llevados a TCMH entre enero de 2001 y diciembre de 2015. Los desenlaces fueron supervivencia global, supervivencia libre de evento y las complicaciones relacionadas con el trasplante. Resultados: Durante el periodo de estudio se trasplantaron: 43 pacientes con diagnóstico de neoplasias mieloides; 31 con LMA (72%); 4 con LMC (9%) y 8 con SMD (19%). Se realizaron 11 trasplantes de donante idéntico, 11 haploidénticos, 11 autólogos y 10 de sangre de cordón umbilical. De los pacientes con LMA (31 casos), el 58% fueron sometidos a trasplante en primera remisión completa y el 39% en segunda o subsecuente remisión completa. La supervivencia global y libre de evento a 5 años fue 56% y 38% respectivamente. La mortalidad relacionada al trasplante en el día 100 fue del 15%, la incidencia acumulada de enfermedad injerto contra huésped 59%, la infección por citomegalovirus 39%, las infecciones bacterianas 54% y la cistitis hemorrágica 14%. Conclusión: La baja tasa de mortalidad y complicaciones relacionadas al trasplante sugiere que el trasplante de células madre hematopoyéticas es una alternativa factible como tratamiento para pacientes con neoplasias mieloides en nuestro medio.

Abstract Objective: To describe the experience, in terms of survival and complications, with patients that received a haematopoietic stem cell transplantation (HSCT) in the last 15 years. Materials and methods: A descriptive, retrospective, cohort study was conducted on patients less than 18 years-old with a diagnosis of acute myeloid leukaemia (AML), chronic myeloid leukaemia (CML), and myelodysplastic syndrome (MDS) and received HSCT between January 2001 and December 2015. The outcomes were, overall survival, event-free survival, and complications associated with the transplant. Results: During the study period, a total of 43 patients with myeloid neoplasms received a transplant, of which 31 (72%) had AML, 4 (9%) with CML, and 8 (19%) with MDS. A total of 11 identical donor transplants were performed, as well as 11 haploidentical, 11 autologous, and 10 with umbilical cord blood. Of the patients with AML (31 cases), 58% were subjected to a transplant in the first full remission, and 39% in the second or subsequent full remission. The overall and event-free survival at 5 years was 56% and 38%, respectively. The transplant-related mortality at day 100 was 15%, with an accumulated incidence of graft versus host disease of 59%, cytomegalovirus infection of 39%, with 54% bacterial infections, and 14% haemorrhagic cystitis. Conclusion: The low mortality and complications rate associated with the transplant suggests that haematopoietic stem cell transplantation is a viable alternative as a treatment for patients with myeloid neoplasms in our country.