Adriana Linares Ballesteros
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View article: Prevalence, clinical profiles, and quality of care in Gaucher disease in Colombia
Prevalence, clinical profiles, and quality of care in Gaucher disease in Colombia Open
Purpose Our aim was to describe the prevalence, clinical profile, and quality of care of people with GD in Colombia. Methods Colombian health insurers provided data on GD patients and healthcare services from January 1 to December 31, 2023…
View article: Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2
Caracterización de variantes en el exón 28 del gen VWF y su correlación genotipo-fenotipo en una muestra de pacientes con enfermedad de Von Willebrand tipo 2 Open
Introduction Von Willebrand's disease is the most common hereditary coagulopathy in the population, the approach of molecular analysis as diagnostic support has been little EvW type 2. The aim of this study is to characterize variants in e…
View article: Suplemento Especial - Resúmenes de Investigación: XXXVI Congreso de Sociedad Latinoamericana de Oncología Pediátrica (SLAOP) y XXIII Congreso de la Asociación Colombiana de Hematología y Oncología Pediátrica – Cali, junio del 2025
Suplemento Especial - Resúmenes de Investigación: XXXVI Congreso de Sociedad Latinoamericana de Oncología Pediátrica (SLAOP) y XXIII Congreso de la Asociación Colombiana de Hematología y Oncología Pediátrica – Cali, junio del 2025 Open
View article: Caracterización genética, farmacogenética y desenlaces en una cohorte de pacientes pediátricos con leucemia mieloide aguda en dos centros de referencia de Bogotá D.C.
Caracterización genética, farmacogenética y desenlaces en una cohorte de pacientes pediátricos con leucemia mieloide aguda en dos centros de referencia de Bogotá D.C. Open
Objetivo: describir y correlacionar las variantes genéticas, farmacogenéticas, características clínicas y desenlaces en una cohorte de pacientes pediátricos con leucemia mieloide aguda de novo en dos centros de cáncer pediátrico de Bogotá …
View article: Deleciones de IKZF1 en pacientes con leucemia linfoblástica aguda. Asociación con desenlaces clínicos en una cohorte de niños en un centro de referencia en Colombia
Deleciones de IKZF1 en pacientes con leucemia linfoblástica aguda. Asociación con desenlaces clínicos en una cohorte de niños en un centro de referencia en Colombia Open
Objetivo: el objetivo de esta evaluación es identificar si hay asociación entre las deleciones del gen IKZF1, características clínicas y desenlaces en menores de 18 años con leucemia linfoblástica aguda. Materiales y métodos: se incluyeron…
View article: Identificación de marcadores de transición epiteliomesénquima (TEM) por inmunohistoquímica en osteosarcoma pediátrico y asociación con desenlaces clínicos.
Identificación de marcadores de transición epiteliomesénquima (TEM) por inmunohistoquímica en osteosarcoma pediátrico y asociación con desenlaces clínicos. Open
Objetivos: la transición epitelio-mesénquima (TEM) es la capacidad de las células epiteliales y mesenquimales de intercambiar de fenotipo de forma transitoria; su identificación en células tumorales carcinomatosas se ha asociado con fenoti…
View article: Caracterización del perfil farmacogenético de los genes ABCB1, CDA, DCK, GSTT1 y GSTM1 del metabolismo de la citarabina y antraciclinas en tres grupos poblacionales de Colombia
Caracterización del perfil farmacogenético de los genes ABCB1, CDA, DCK, GSTT1 y GSTM1 del metabolismo de la citarabina y antraciclinas en tres grupos poblacionales de Colombia Open
Objetivo: describir las frecuencias alélicas y genotípicas de variantes genéticas en los genes ABCB1, CDA, DCK, GSTT1 y GSTM1, involucrados en el metabolismo de la citarabina y antraciclinas en la población colombiana. Materiales y Métodos…
View article: Modified NEOMOD score as a neonatal mortality prediction tool in a medium‐income country: A validation diagnostic test study
Modified NEOMOD score as a neonatal mortality prediction tool in a medium‐income country: A validation diagnostic test study Open
Background and Aims Multiple organ dysfunction (MOD) is a potentially reversible physiological disorder that involves two or more systems. Modified NEOMOD (Neonatal Multiple Organ Dysfunction score) scale could be a useful instrument to me…
View article: SARS-CoV-2 infection in newborn infants: descriptive epidemiological analysis of cases reported to the Colombian national surveillance system during the first pandemic year, March 2020–February 2021
SARS-CoV-2 infection in newborn infants: descriptive epidemiological analysis of cases reported to the Colombian national surveillance system during the first pandemic year, March 2020–February 2021 Open
Objective To describe the clinical and epidemiological characteristics of newborn infants with SARS-CoV-2 infection notified in the Colombian Public Health Surveillance System. Design This epidemiological descriptive analysis was conducted…
View article: Identificación de marcadores de transición epitelio-mesénquima (TEM) por inmunohistoquímica en osteosarcoma pediátrico y asociación con desenlaces clínicos
Identificación de marcadores de transición epitelio-mesénquima (TEM) por inmunohistoquímica en osteosarcoma pediátrico y asociación con desenlaces clínicos Open
La transición epitelio-mesénquima (TEM) es la capacidad de las células epiteliales y mesenquimales de intercambiar de fenotipo de forma transitoria; su identificación en células tumorales carcinomatosas se ha asociado con fenotipos clínico…
View article: Pharmacogenetics of <scp><i>ABCB1</i></scp>, <scp><i>CDA</i></scp>, <scp><i>DCK</i></scp>, <scp><i>GSTT1</i></scp>, <scp><i>GSTM1</i></scp> and outcomes in a cohort of pediatric acute myeloid leukemia patients from Colombia
Pharmacogenetics of <span><i>ABCB1</i></span>, <span><i>CDA</i></span>, <span><i>DCK</i></span>, <span><i>GSTT1</i></span>, <span><i>GSTM1</i></span> and outcomes in a cohort of pediatric acute myeloid leukemia patients from Colombia Open
Background and Aim Different studies have shown pharmacogenetic variants related to drug toxicity in acute myeloid leukemia (AML) patients. Our aim was to identify the association between ABCB1, CDA , DCK , GSTT1 , and GSTM1 variants with …
View article: Genomic alterations in a cohort of pediatric acute myeloid leukemia patients at two cancer centers in Colombia
Genomic alterations in a cohort of pediatric acute myeloid leukemia patients at two cancer centers in Colombia Open
Few studies identifying genomic aspects in pediatric acute myeloid leukemia patients in Latin American countries have been reported. The aim of this study was to identify genomic alterations, clinical characteristics and outcomes in a coho…
View article: Association between early risk factors and CDKN2A/B deletion in pediatric patients with acute lymphoblastic leukemia in a pediatric cancer center in Colombia
Association between early risk factors and CDKN2A/B deletion in pediatric patients with acute lymphoblastic leukemia in a pediatric cancer center in Colombia Open
View article: Philadelphia‐like acute lymphoblastic leukemia: Characterization in a pediatric cohort in a referral center in Colombia
Philadelphia‐like acute lymphoblastic leukemia: Characterization in a pediatric cohort in a referral center in Colombia Open
Background Philadelphia‐like (Ph‐like) acute lymphoblastic leukemia (ALL) is a subtype of pediatric leukemia with high risk factors and poor outcome. There are few reports of its prevalence in Latin America. Aim This study evaluated the fr…
View article: Sensitization to Drug Treatment in Precursor B-Cell Acute Lymphoblastic Leukemia Is Not Achieved by Stromal NF-κB Inhibition of Cell Adhesion but by Stromal PKC-Dependent Inhibition of ABC Transporters Activity
Sensitization to Drug Treatment in Precursor B-Cell Acute Lymphoblastic Leukemia Is Not Achieved by Stromal NF-κB Inhibition of Cell Adhesion but by Stromal PKC-Dependent Inhibition of ABC Transporters Activity Open
Cell adhesion to stromal support and the associated intracellular signaling are central to drug resistance, therefore blocking both has been effective in increasing drug sensitization in leukemia. The stromal Ser/Thr protein kinase C (PKC)…
View article: Leukemia-Induced Cellular Senescence and Stemness Alterations in Mesenchymal Stem Cells Are Reversible upon Withdrawal of B-Cell Acute Lymphoblastic Leukemia Cells
Leukemia-Induced Cellular Senescence and Stemness Alterations in Mesenchymal Stem Cells Are Reversible upon Withdrawal of B-Cell Acute Lymphoblastic Leukemia Cells Open
Leukemic cell growth in the bone marrow (BM) induces a very stressful condition. Mesenchymal stem cells (MSC), a key component of this BM niche, are affected in several ways with unfavorable consequences on hematopoietic stem cells favorin…
View article: Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia
Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia Open
Objective: This study aimed to correlate the genetic profile of the NUDT15 and TPMT genes with the side effects of the treatment of pediatric patients with acute lymphoid leukemia who were undergoing maintenance therapy at a tertiary care …
View article: Evidence-based clinical practice guideline for the management of primary immune thrombocytopenia (ITP) in pediatric population
Evidence-based clinical practice guideline for the management of primary immune thrombocytopenia (ITP) in pediatric population Open
Introduction: Primary immune thrombocytopenia (ITP) is the most common cause of thrombocytopenia in children, with a reported incidence of 1.1-12.5 cases per 100 000 children. However, currently, there are several definitions of ITP, as we…
View article: Early-onset Cardiotoxicity assessment related to anthracycline in children with leukemia. A Prospective Study
Early-onset Cardiotoxicity assessment related to anthracycline in children with leukemia. A Prospective Study Open
Background: Acute leukemias are the most frequent malignancies in children. Advances in treatment have improved the overall survival to 80%. Almost 10% of children with cancer develop clinical cardiac toxicity. Total anthracycline cumulati…
View article: Resultados de la implementación del protocolo PETHEMA LPA 99 en el tratamiento de niños con leucemia promielocítica aguda en Bogotá, Colombia
Resultados de la implementación del protocolo PETHEMA LPA 99 en el tratamiento de niños con leucemia promielocítica aguda en Bogotá, Colombia Open
Introducción. En Estados Unidos de América, entre 4 y 8% de niños con leucemias mieloides agudas tienen leucemia promielocítica aguda (LPA), mientras que en Latinoamérica se ha descrito una mayor incidencia de esta neoplasia (20-28%). La i…
View article: Dual Targeting of Stromal Cell Support and Leukemic Cell Growth by a Peptidic PKC Inhibitor Shows Effectiveness against B-ALL
Dual Targeting of Stromal Cell Support and Leukemic Cell Growth by a Peptidic PKC Inhibitor Shows Effectiveness against B-ALL Open
Mesenchymal stem cells (MSC) favour a scenario where leukemic cells survive. The protein kinase C (PKC) is essential to confer MSC support to leukemic cells and may be responsible for the intrinsic leukemic cell growth. Here we have evalua…
View article: Molecular characterization of hemophilia B patients in Colombia
Molecular characterization of hemophilia B patients in Colombia Open
Background Hemophilia B (HB) is a coagulation disorder with an X‐linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high‐cost disease, with 362 males reported in 2017. Methods He…
View article: <p>First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities</p>
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities Open
These were the first cases in Colombia to show early vertical transmission of ZIKV and the first cases associated with congenital cerebral abnormalities in which molecular, infectious, and genomic tests were performed.
View article: Resultados del Protocolo ACHOP 2006 en los niños con leucemia linfoblástica aguda en la Fundación HOMI Hospital de la Misericordia de Bogotá, en el periodo 2007 - 2012
Resultados del Protocolo ACHOP 2006 en los niños con leucemia linfoblástica aguda en la Fundación HOMI Hospital de la Misericordia de Bogotá, en el periodo 2007 - 2012 Open
Introducción: la leucemia aguda es la neoplasia más común en niños, constituye aproximadamente el 25 % de todos los tumores en la infancia. En Colombia la proporción de curación, alrededor del 50 %, es inferior a lo informado en países des…
View article: Programa para diagnóstico molecular de hemofilia A y B en Colombia.
Programa para diagnóstico molecular de hemofilia A y B en Colombia. Open
Introducción: desarrollar un programa colaborativo multicéntrico para el diagnóstico molecular de hemofiliaA y B (HA, HB, respectivamente), y el asesoramiento genético a las familias afectadas. El programacolaborativo se desarrolló entre e…
View article: Características de los sangrados en niños con hemofilia en un centro de referencia en Colombia
Características de los sangrados en niños con hemofilia en un centro de referencia en Colombia Open
"Introducción: La hemofilia es el trastorno hemorrágico congénito más frecuente en los varones, los pacientes con enfermedad severa pueden tener sangrados espontáneos que llevan a discapacidad. Objetivo: Describir las características de lo…
View article: Hipertensión pulmonar en niños con anemia de células falciformes que viven a gran altura.
Hipertensión pulmonar en niños con anemia de células falciformes que viven a gran altura. Open
Introducción. La anemia de células falciformes (ACF) es una hemoglobinopatía muy frecuente. Su espectro de manifestaciones clínicas es amplio y va desde personas que sufren de enfermedad grave hasta pacientes que tienen manifestaciones clí…
View article: Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report Open
The clinical presentation and the histopathological findings of this case are consistent with a case of neonatal respiratory failure due to surfactant deficiency. Analysis of the five coding SP-C exons does not support surfactant deficienc…
View article: Intensive chemotherapy in children with acute lymphoblastic leukemia. Interim analysis in a referral center in Colombia.
Intensive chemotherapy in children with acute lymphoblastic leukemia. Interim analysis in a referral center in Colombia. Open
Background: Acute lymphoblastic leukemia is the most common cancer in children. In developed countries, overall survival rates are around 80%, while in developing countries, survival rate is much lower due to high rates of relapse, and aba…
View article: Evaluation of the diagnostic performance of platelet-derived indices for the differential diagnosis of thrombocytopenia in pediatrics
Evaluation of the diagnostic performance of platelet-derived indices for the differential diagnosis of thrombocytopenia in pediatrics Open
Background. Platelet-derived indices have a well-established correlation with the differential diagnosis of thrombocytopenia in adult-based research. These indices include mean platelet volume, platelet distribution width, and platelet-lar…