Clinical characteristics, imaging findings, management, and outcomes of patients with scimitar syndrome at a tertiary referral healthcare center in Colombia.

Scimitar Syndrome is part of a complex spectrum of congenital cardiovascular anomalies related to anomalous pulmonary venous return. Depending on the extent of involvement, treatment can be either expectant or surgical. Prognosis and survival have been controversial, with some results supporting early surgical management. This research aims to disclose the outcomes and describe the management, clinical and imaging characteristics of patients diagnosed with Scimitar Syndrome treated in a tertiary referral healthcare center. Longitudinal descriptive observational study. The study included all patients diagnosed with scimitar syndrome in our institution between January/2011 and December/2022. A description of the sociodemographic and clinical characteristics, diagnostic tools used, treatment features, and patient outcomes is provided. Eleven patients were included, with a mean age at diagnosis of five years (CI 0-17), six of which were female (54.55%). Nine (81.82%) patients had evidence of a scimitar vein on the chest radiograph, six (54.55%) cardiac dextroposition, six (54.55%) pulmonary hypoplasia, five (45.45%) right pulmonary artery hypoplasia, and three (27.27%) had aortopulmonary collaterals. Four (36.36%) patients had horseshoe lungs, and four (36.36%) had bronchopulmonary sequestration. In the associations, two (18.18%) patients were found to have an atrial septal defect, three (27.27%) ventricular septal defect, and one (9%) had Tetralogy of Fallot. Pulmonary hypertension was demonstrated in two (18.18%) patients. Seven (63.64%) required surgical management to correct the scimitar vein, and two patients died due to unrelated complications. Scimitar syndrome presents diagnostic and treatment challenges, necessitating a multidisciplinary approach for timely care. Chest radiography and CT scans are primary diagnostic tools, with surgical intervention often warranted alongside other heart defects or significant hemodynamic repercussions. Medical management is effective for mild to moderate cases. Long-term patient outcomes remain uncertain due to study limitations, but improved life expectancy is anticipated with ongoing care.

Genetic insights into Cyphocharax magdalenae (Characiformes: Curimatidae): Microsatellite loci development and population analysis in the Cauca River, Colombia.

Cyphocharax magdalenae, a Colombian freshwater fish species, plays a vital role in nutrients distribution and serves as a significant food source for other fish species and local fishing communities. Considered a short-distance migratory species, C. magdalenae populations face substantial extinction risk due to human activities impacting their habitats. To address the lack of knowledge on genetic diversity and population structure, this study used next-generation sequencing technology to develop species-specific microsatellite loci and conducted a population genetics analysis of C. magdalenae in the middle and lower sections of the Cauca River, Colombia. Out of 30 pairs of microsatellite primers evaluated in 324 individuals, 14 loci were found to be polymorphic, at linkage equilibrium and, in at least one population, their genotypic frequencies were in Hardy-Weinberg equilibrium. Results showed high genetic diversity levels compared to other neotropical Characiformes, with inbreeding coefficients similar to those reported for phylogenetically related species. Moreover, C. magdalenae exhibits seasonal population structure (rainy-dry) consisting of two genetic stocks showing bottleneck signals and high effective population sizes. This information is essential for understanding the current species genetics and developing future management programs for this fishery resource.

Management of right ventricular outflow tract with percutaneous Melody valve implantation in pediatric patients: experience in a high complexity center in Colombia.

BACKGROUND: Congenital heart disease poses a therapeutic challenge, specifically pulmonary valve stenosis. This has been treated for many years with invasive procedures and bioprostheses, which over time, become dysfunctional due to the accumulation of fibrous tissue and calcification. OBJECTIVE: The aim of this study is to describe the use of endovascular management in the right ventricular outflow tract, as the beginning of an ongoing effot to improve pediatric outcomes in developing countries. METHODS: Seven pediatric patients with endovascular management of the right outflow tract are presented. Three of them underwent surgical valvuloplasty with persistent pulmonary stenosis. They decided to insert a percutaneous transcatheter pulmonary valve (PPVI) with a Melody valve using the valve-in-valve technique, with 100% stenosis and no complications associated with the procedure. RESULTS: Four patients with successful percutaneous valve implantation had different congenital heart diseases. In addition, the case of a patient in whom an intentional pulmonary valve fracture was performed, an innovative procedure in pediatric endovascular management in the country, is highlighted. CONCLUSIONS: The procedure was minimally invasive, safe, and effective. The IVPP technique could be a viable option in our country for managing failed primary valve implantations or even in native tracts.

ANTECEDENTES: Las cardiopatías congénitas plantean un desafío terapéutico, específicamente la estenosis de la válvula pulmonar. Esta ha sido tratada durante muchos años con procedimientos invasivos e inserción de bioprótesis, que con el tiempo se vuelven disfuncionales y pueden reestenosarse por acumulación de tejido fibroso y calcificación. Debido a las complicaciones generadas por la injuria quirúrgica, se han descrito medidas menos invasivas para el manejo de la estenosis residual e inicial por medios endovasculares en adultos y más recientemente en población pediátrica. OBJETIVO: El objetivo de este reporte es describir la misma en el manejo endovascular del tracto de salida del ventrículo derecho, como el inicio de un trabajo continuo para la mejoría de los resultados pediátricos en países en vía de desarrollo. MÉTODOS: Se presentan siete casos pediátricos de manejo endovascular del tracto de salida derecho; tres de ellos sometidos a valvuloplastia quirúrgica con persistencia de la estenosis pulmonar, por lo cual se decidió inserción percutánea de una válvula pulmonar (IVPP) transcatéter con válvula Melody utilizando la técnica valve-in-valve, con lo que se consiguió una resolución del 100% de la estenosis y no se presentó ningún tipo de complicación asociada al procedimiento. RESULTADOS: En cuatro pacientes se logró una implantación exitosa de la válvula por vía percutánea en diferentes cardiopatías congénitas, siendo uno de ellos en tracto nativo; además, destaca el caso de un paciente en quien se realizó fractura intencional de la válvula pulmonar, procedimiento innovador en el manejo endovascular pediátrico en Colombia. CONCLUSIONES: En estos pacientes el procedimiento resultó ser poco invasivo, seguro y efectivo. La técnica IVPP podría ser considerada una opción viable en Colombia (y en otros países en desarrollo) para el manejo de implantes valvulares primarios fallidos o incluso en tractos nativos.

Diagnostic Reference Levels in Interventional Pediatric Cardiology: Two-Year Experience in a Tertiary Referral Hospital in Latin America.

The goal of the present study was to propose the first local diagnostic reference levels (DRLs) for interventional pediatric cardiology procedures in a large hospital in Colombia. The data collection period was from April 2020 to July 2022. The local DRLs were calculated as the 3rd quartile of patient-dose distributions for the kerma-area product (Pka) values. The sample of collected clinical procedures (255) was divided into diagnostic and therapeutic procedures and grouped into five weight and five age bands. The Pka differences found between diagnostic and therapeutic procedures were statistically significant in all weight and age bands, except for the 1-5-year age group. The local DRLs for weight bands were 3.82 Gy·cm2 (<5 kg), 7.39 Gy·cm2 (5-<15 kg), 19.72 Gy·cm2 (15-<30 kg), 28.99 Gy·cm2 (30-<50 kg), and 81.71 Gy·cm2 (50-<80 kg), respectively. For age bands, the DRLs were 3.97 Gy·cm2 (<1 y), 9.94 Gy·cm2 (1-<5 y), 20.82 Gy·cm2 (5-<10 y), 58.00 Gy·cm2 (10-<16 y), and 31.56 Gy·cm2 (<16 y), respectively. In conclusion, when comparing our results with other existing DRL values, we found that they are similar to other centers and thus there is scope to continue optimizing the radiation dose values. This will contribute to establishing national DRLs for Colombia in the near future.

Presentación inusual del síndrome de Lutembacher / Unusual presentation of Lutembacher’s syndrome

Resumen Introducción: El síndrome de Lutembacher corresponde a la asociación de un defecto interauricular (congénito o iatrogénico) e insuficiencia o estenosis mitral (congénita o adquirida). La etiología reumática es la causa más frecuente del compromiso mitral. Tiene una prevalencia reportada de 0.001 por cada 1.000.000 habitantes. Caso clínico: Paciente femenina de 6 años con cuadro de 10 meses de palpitaciones asociadas a dolor torácico. Se realizó un electrogardiograma en el que se evidenció bloqueo incompleto de la rama derecha del haz de His y prolongación del intervalo PR, además de un ecocardiograma en el que se visualizó una comunicación interauricular tipo ostium secundum no restrictiva de 28 mm, con cortocircuito de izquierda a derecha, dilatación del ventrículo derecho, prolapso de válvula mitral, valvas engrosadas e insuficiencia mitral moderada a grave. Se realizó plastia de válvula mitral y cierre quirúrgico de la comunicación interauricular, sin complicaciones. Durante el seguimiento se encuentra asintomática desde el punto de vista cardiovascular, en manejo farmacológico. Conclusiones: La asociación Lutembacher tiene una prevalencia de 0.001/1.000.000 habitantes; la mayoría tiene etiología reumática. La paciente no tiene historia de fiebre reumática y sería la paciente más joven reportada en la literatura con síndrome de Lutembacher.

Abstract Introduction: Lutembacher’s syndrome corresponds to the association of an atrial septal defect (congenital or iatrogenic) and mitral regurgitation or stenosis (congenital or acquired), with rheumatic etiology being the most-frequent cause of mitral regurgitation. It has a reported prevalence of 0.001 for every 1,000,000 inhabitants. Clinical case: Female patient six years of age with a 10-month condition of palpitations associated with chest pain. An electrocardiogram was performed with evidence of incomplete right His bundle branch block and PR interval prolongation; additionally, an echocardiogram showed 28-mm non-restrictive ostium secundum atrial septal defect, with left-to-right shunt, right ventricular dilation, mitral valve prolapse, thickened valves, and moderate-to-severe mitral regurgitation. Mitral valve plasty and surgical closure of the atrial septal defect were performed, without complications. During follow-up, she was asymptomatic from the cardiovascular point of view, under pharmacological management. Conclusions: Lutembacher’s association has a prevalence of 0.001/1´000.000 inhabitants; the majority with rheumatic etiology. Our patient has no history of rheumatic fever and would be the youngest patient reported in the literature with Lutembacher’s syndrome.

Fanconi anemia and haploidentical stem cell transplantation.

BACKGROUND: Fanconi anemia is a congenital disorder belonging to bone marrow syndromes, with a risk of developing malignancy. Hematopoietic stem cell transplantation is the only curative treatment in these cases. Here, we aimed to report our clinical experience in pediatric patients with Fanconi anemia treated with haploidentical stem cell transplantation and post-transplant cyclophosphamide, an alternative strategy. METHODS: We performed a case report based on clinical records of two patients who signed the informed consent form and were treated at Fundación Valle del Lili. RESULT: Two pediatric patients, both with reduced-intensity conditioning, prophylaxis for acute graft-versus-host disease with post-transplant cyclophosphamide. They achieved primary neutrophil/platelets engraftment, and 100% chimerism. Had grade I or II graft-versus-host disease resolved? Currently are alive and in complete remission. CONCLUSIONS: The use of mismatched related donors for haploidentical stem cell transplantation and post-transplant cyclophosphamide might be a promising option, and well-tolerated in pediatric patients. Serial chimerism can be useful during follow-up.

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

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

Trastornos mieloproliferativos y leucemia en síndrome de Down. Presentación de dos casos clínicos en el período neonatal / Myeloproliferative disorders and leukemia related to Down syndrome. Report of two clinical cases in neonatal period

ElsíndromedeDownpredisponeatrastornosmieloproliferativos. Se estima que del 5 % al 30 % de los neonatos con esta condición desarrollarán mielopoyesis anormal transitoria. El tratamiento no está estandarizado; la exanguinotransfusión y la citarabina podrían ser efectivos. Se describen dos casos de pacientes con síndrome de Down, quienes durante el período neonatal presentaron leucemia mieloide aguda y mielopoyesis anormal transitoria, los tratamientos utilizados y sus desenlaces. Se considera que la sospecha y el diagnóstico temprano de esta entidad son factores determinantes en el pronóstico.

Down syndrome predisposes to haematological disorders. It is estimated that 5-30% of neonates with this condition will develop transient abnormal myelopoiesis. Treatment is not standardized; exchange transfusion and the use of cytarabine could be effective. We present two clinical cases of patients with Down syndrome, who during the neonatal period showed acute myeloid leukemia and transient abnormal myelopoiesis, the treatments used and their outcomes. Suspicion and early diagnosis of this entity are considered determining factors in prognosis.

[Myeloproliferative disorders and leukemia related to Down syndrome. Report of two clinical cases in neonatal period]. / Trastornos mieloproliferativos y leucemia en síndrome de Down. Presentación de dos casos clínicos en el período neonatal.

Down syndrome predisposes to haematological disorders. It is estimated that 5-30% of neonates with this condition will develop transient abnormal myelopoiesis. Treatment is not standardized; exchange transfusion and the use of cytarabine could be effective. We present two clinical cases of patients with Down syndrome, who during the neonatal period showed acute myeloid leukemia and transient abnormal myelopoiesis, the treatments used and their outcomes. Suspicion and early diagnosis of this entity are considered determining factors in prognosis.

El síndrome de Down predispone a trastornos mieloproliferativos. Se estima que del 5 % al 30 % de los neonatos con esta condición desarrollarán mielopoyesis anormal transitoria. El tratamiento no está estandarizado; la exanguinotransfusión y la citarabina podrían ser efectivos. Se describen dos casos de pacientes con síndrome de Down, quienes durante el período neonatal presentaron leucemia mieloide aguda y mielopoyesis anormal transitoria, los tratamientos utilizados y sus desenlaces. Se considera que la sospecha y el diagnóstico temprano de esta entidad son factores determinantes en el pronóstico.

Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth

Objective: In small for gestational age (SGA) children, catch-up growth could be influenced by methylation of several genes involved in metabolism. Epigenetics may influence the development of metabolic diseases in adulthood. To compare the methylation of leptin (LEP), glucagon-like peptide-2 receptor (GLP2R), insulin receptor substrate-2 (IRS2) in SGA patients with and without catch-up growth. Methods: Observational prospective study of SGA children. Demographical and clinical variables were collected from clinical records and parents' questionnaire. Methylation status of LEP, IRS2, and GLP2R promoters was evaluated in DNA extracted from patient and one parent saliva samples. Results: Forty-eight SGA patients were included. Twenty-six (54.2%) had catch-up growth phenotype and 22 (45.8%) did not. The median age was 5.2 years [RIC 4.1-6.8] without difference between groups (p=0.306). The catch-up group had increased appetite (42.3% vs 9.1%, p=0.008), family history of dyslipidemia (42.3% vs 27.3%) and diabetes (34.6% vs 22.7%) compared to non-catch-up group. Catch-up patients had significantly larger waist circumference compared to non-catch-up group (median 55 cm [RIC 52-58] versus median 49.5 cm [RIC46-52]; p<0.001). LEP and GLP2R were methylated in all samples. IRS2 was methylated in 60% of SGA patients without difference between groups (p=0.520). Conclusion: There is no association between IRS2 methylation and catch-up growth among SGA patients. LEP and GLP2R were methylated in all SGA patients. Gene methylation may be implicated in metabolic disease later in life. More studies should be performed to confirm this hypothesis.

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

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

Deficiencia de lipasa ácida lisosomal, una patología infrecuente.

Lysosomal acid lipase deficiency is a genetic disease with a low prevalence and high morbidity and mortality in children and adults. It is characterized by an alteration of lipid metabolism, which generates cholesterol and triglyceride esters deposits in the body. Its clinical presentation depends on enzymatic activity. This condition should be suspected in patients with lipid or liver alterations after ruling out other diagnoses. Currently, there is the option of using a recombinant enzyme, which can improve lipid and liver parameters, as well as disease progression. Establishing a timely diagnosis in order to initiate specific treatment early is imperative for the prevention of morbidity and mortality. The purpose of this work is to perform a review of the literature about lysosomal acid lipase deficiency and to guide about its pathophysiology, clinical manifestations, diagnosis and treatment.

El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos. Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo. La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante, la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.

Deficiencia de lipasa ácida lisosomal, una patología infrecuente / Lysosomal acid lipase deficiency, a rare pathology

Resumen El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos. Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo. La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante, la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.

Abstract Lysosomal acid lipase deficiency is a genetic disease with a low prevalence and high morbidity and mortality in children and adults. It is characterized by an alteration of lipid metabolism, which generates cholesterol and triglyceride esters deposits in the body. Its clinical presentation depends on enzymatic activity. This condition should be suspected in patients with lipid or liver alterations after ruling out other diagnoses. Currently, there is the option of using a recombinant enzyme, which can improve lipid and liver parameters, as well as disease progression. Establishing a timely diagnosis in order to initiate specific treatment early is imperative for the prevention of morbidity and mortality. The purpose of this work is to perform a review of the literature about lysosomal acid lipase deficiency and to guide about its pathophysiology, clinical manifestations, diagnosis and treatment.

Reconstrucción de experiencias y percepciones propias de jóvenes habitantes de calle / Reconstruction of experiences and self-perceptions of homeless young people / Reconstrução da experiência e percepções próprias dos jovens em situação de rua

Resumen (analítico): En este artículo describimos los resultados de la investigación realizada en la Casa de Acogida para jóvenes de Medellín, trabajo en el que buscamos dar cuenta de la autopercepción de los individuos jóvenes en situación de calle que están en una etapa de recuperación, en relación con la forma en que los perciben los otros. Para ello, implementamos una metodología de investigación de tipo cualitativa, orientada por un enfoque fenomenológico que permitiera la reconstrucción de sus experiencias. En el diseño metodológico mezclamos técnicas experienciales con la realización de grupos focales, lo que nos permitió el levantamiento de la información. Entre los hallazgos presentamos las reflexiones que las personas jóvenes realizan sobre su proceso de resocialización, la estigmatización y las iniciativas relacionadas con el cambio de vida.

Abstract (analytical): This article describes the results of research carried out in the Medellin Youth Reception House. The study explored the self-perception of homeless youth who are now in the recovery phase, in terms of how they are perceived by others. A methodology of qualitative investigation using a phenomenological approach was applied and facilitated the reconstruction of their experiences. The information was gathered using a mix of experiential techniques and focus groups. The results of the study include the subjects' reflections on their process of re-socialization, stigmatization and initiatives related to how they changed their lives form. change of life are among the findings in this study.

Resumo (analítico): Neste artigo se descrevem os resultados da pesquisa realizada no Abrigo para jovens de Medellín, que procurou explicar a auto-percepção dos jovens moradores de rua que estão em uma fase de recuperação, em relação à forma como eles são percebidos pelos outros, para o qual foi implementada uma metodologia de pesquisa qualitativa guiada por uma abordagem fenomenológica que permitiria a reconstrução das suas experiências. No desenho metodológico foram misturadas técnicas experienciais com a realização de grupos focais que permitiram o levantamento da informação. Entre os resultados são apresentadas as reflexões que os jovens fizeram sobre o seu processo de ressocialização, a estigmatização e as iniciativas relacionadas com a mudança de vida.

Aspergillus hepatic artery thrombosis in liver transplantation.

We present the first cirrhotic patient who underwent liver transplantation (LT) and presented a hepatic artery thrombosis of the graft due to Aspergillus fumigatus, within the first month of LT. This culminated in graft loss, re-transplant with multiple biliary and infectious complications. To our knowledge, this is a case report of an early hepatic artery thrombosis due to Aspergillus fumigatus in an infection-free patient.

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.

BACKGROUND Lysosomal acid lipase deficiency is a rare genetic metabolic lipid storage disease, with a high morbidity, and mortality, in children and adults. It is characterized by a mutation in the LIPA gene that causes an alteration of lipid metabolism, resulting in deposits of cholesterol esters and triglycerides in organs such as the liver, blood vessels, and gastrointestinal tract. Lysosomal acid lipase deficiency is predominantly caused by the mutation c.894G>A, seen in approximately 50-70% of patients. Our objective is to report the first pediatric case of lysosomal acid lipase deficiency in a pediatric patient in Colombia. CASE REPORT The patient is a 14-year-old boy with isolated hepatomegaly since 6 years of age without a family history of dyslipidemia. In the pediatric control, laboratory exams revealed dyslipidemia, and a hepatic biopsy was performed, revealing severe fibrosis with septation and grade 3 microvesicular steatosis (>75%). He was referred to our center and was suspected to have lysosomal acid lipase deficiency. Enzymatic activity was measured, showing absent activity. Confirmatory diagnosis with genetic sequencing showed a pathological homozygous mutation of c.894G>A. CONCLUSIONS Lysosomal acid lipase deficiency can manifest as early- or late-onset, with variable and severe signs and symptoms. The late-onset form has a broad spectrum of manifestations with mild symptoms, leading to under-diagnosis, which increases the actual disease burden. Early diagnosis is essential to initiate enzyme replacement therapy, since the natural disease course can be changed. More studies should be conducted in Latin America to evaluate the prevalence of the disease.

[Invasive pulmonary aspergillosis in children with hepatic transplant: a survivor]. / Aspergilosis pulmonar invasora en pacientes pediátricos con trasplante hepático, a propósito de una sobreviviente.

INTRODUCTION: Mycotic infections due to Aspergillus spp, are the main mycotic associated infections in liver transplant patients, with mortality rates up to 90% of the cases. Almost 50% of patients will de velop an infection during the first months after transplantation, of which 10% are associated with op portunistic agents. OBJECTIVE: To describe the diagnosis and management of an Invasive Pulmonary Aspergillosis (IPA) episode in a liver transplant patient. CASE REPORT: 11-months-old patient with liver transplant due to a biliary atresia who developed severe pneumonia associated with mechanical ventilation. The bronchoalveolar lavage showed high levels of galactomannan and positive culture for Aspergillus fumigatus leading to an IPA diagnosis. This episode was treated with antifungal with a favorable outcome. CONCLUSION: The IPA is an opportunistic infection in liver transplant patients, with high mortality rates, that must be suspected in this group of patients since an early diagnosis and treatment reduce mortality.

Aspergilosis pulmonar invasora en pacientes pediátricos con trasplante hepático, a propósito de una sobreviviente / Invasive pulmonary aspergillosis in children with hepatic transplant: a survivor

INTRODUCCIÓN: Las infecciones por Aspergillus spp son la principal infección micótica por hongos en pacientes con trasplante hepático, con una mortalidad reportada de hasta un 90% de los casos. En los pacientes trasplantados de hígado se espera que hasta un 50% desarrollen un episodio infeccioso en sus primeros meses postrasplante, de los cuales un 10% se asocian con agentes oportunistas. OBJETIVO: Describir el diagnóstico y manejo de un episodio de Aspergilosis Pulmonar Invasora (API) en una paciente con un trasplante hepático CASO CLÍNICO: Paciente de 11 meses de vida, con trasplante hepático secundario a atresia de vías biliares. En el periodo post-trasplante inmediato evolucionó con una neumonía grave asociada a ventilación mecánica. El lavado broncoalveolar presentó niveles altos de galactomanano y cultivo positivo para Aspergillus fumigatus, diagnosticándose una API. Este episodio se trató con un esquema de antifúngico con un resultado clínico favorable. CONCLUSIÓN: La API es una infección oportunista en pacientes con trasplante hepático, que debe ser sospechada en este grupo de pacientes, ya que el diagnóstico y tratamiento oportuno impacta directamente en la resolución de la infección por Aspergillus fumigatus.

INTRODUCTION: Mycotic infections due to Aspergillus spp, are the main mycotic associated infections in liver transplant patients, with mortality rates up to 90% of the cases. Almost 50% of patients will de velop an infection during the first months after transplantation, of which 10% are associated with op portunistic agents. OBJECTIVE: To describe the diagnosis and management of an Invasive Pulmonary Aspergillosis (IPA) episode in a liver transplant patient. CASE-REPORT: 11-months-old patient with liver transplant due to a biliary atresia who developed severe pneumonia associated with mechanical ventilation. The bronchoalveolar lavage showed high levels of galactomannan and positive culture for Aspergillus fumigatus leading to an IPA diagnosis. This episode was treated with antifungal with a favorable outcome. CONCLUSION: The IPA is an opportunistic infection in liver transplant patients, with high mortality rates, that must be suspected in this group of patients since an early diagnosis and treatment reduce mortality.

Principales causas de negativa familiar a la donación de órganos y tejidos: 10 años de experiencia en un centro latinoamericano / Main causes of family refusal to organ and tissue donation: 10 years of experience in a latin american center

No disponible