Children with cancer at the end of life in a middle-income country: integrated pediatric palliative care improves outcomes.

BACKGROUND: In 2020, the Global Cancer Observatory reported 280,000 cases of childhood cancer worldwide, with a higher burden of disease and mortality rates in low- and middle-income countries. In 2022, the National Institute of Health reported 1708 new cases of childhood cancer in Colombia and an overall survival rate of approximately 55%. The aim of this study is to compare outcomes in children with cancer in the hospital setting during the last 72 h of life who received concurrent Pediatric Palliative Care (PPC) versus oncology care alone. METHODS: An observational descriptive study was conducted between January 2013 and June 2022 in a center for pediatric patients with oncological diagnoses. In 2017, the PPC team was created. Patients between 28 days and 17 years of age who were hospitalized at least 72 h before death were included. A retrospective review of the medical records of patients in the last 72 h of life was performed. Two cohorts were established: oncology-alone group received exclusive management by oncology, and oncology and PPC received concurrent oncology and PPC management since the diagnosis. RESULTS: We evaluated 257 medical records of deceased pediatric patients with cancer diagnoses. For the first cohort (2013-2017), 136 patients were included; for the second cohort (2018 and 2022), 121 patients were evaluated. The most frequent diagnosis was leukemia [47.1% (n = 121)]. No significant difference was found in either group between dyspnea, pain, and seizures. Dyspnea was the most frequent symptom in both groups. Agitation and anxiety were reported more frequently in children from the oncology-alone group (22.1% and 13.2%, respectively). The oncology and PPC group received more psychology and social work consultation (94.2% and 70.2% vs. 84.6 and 54.4% in the oncology alone group) and had a higher percentage of advance care planning (79.3% vs. 62.5% in the oncology alone group). CONCLUSIONS: This retrospective study highlights that PPC at the end of life (EoL) offers a holistic approach to the physical and psychosocial symptoms experienced by children with cancer; these patients received more comfort through symptom management and less aggressive treatment at the EoL. The availability of a PPC team may contribute to improvements in the quality of end-of-life care. TRIAL REGISTRATION: retrospectively registered.

Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.

INTRODUCTION: In recent decades, there has been a growing increase in the diagnosis of patients with inborn errors of the immune system, formerly known as primary immunodeficiency disorders (PIDs). Timely diagnosis remains a challenge due to low clinical suspicion and poor education on the subject. It is estimated that between 70% and 90% of these pathologies remain underdiagnosed in our environment. OBJECTIVE: The objective of this study is to characterize the demographic and clinical presentation of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital. METHODS: Retrospective descriptive study of 306 patients with a diagnosis of innate errors of the immune system who consulted the PID clinic between 2011 and 2018 in a high-complexity institution in Cali, Colombia. RESULTS: Three-hundred and six patients were included. The median age was 4 years (IQR 2.3-7.7 years), and 59.5% of the patients were male. According to the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency classification for inborn errors of the immune system, the most common group was antibody deficiency in 74.8% (n˂229), especially in the age group between 1 and 5 years. The least frequent in our population was complement deficiency. Of the warning signs stipulated for these pathologies, the most frequent were the (1) need for intravenous antibiotics (32%), (2) difficulty growing (15.7%), (3) four or more episodes of ear infection (10.8%), and (4) abscesses in organs or cutaneous abscesses (12.7%). No patient reported two or more episodes of pneumonia or sinusitis, and only 5.8% of the patients received a bone marrow transplant. CONCLUSIONS: Innate errors of the immune system require an early diagnosis with follow-up from an early age to ensure adequate management and follow-up in order to reduce morbidity and mortality. It is imperative to sensitize the medical population about the existence of these pathologies so that early intervention can be carried out, which improves the quality of life of patients and their families.

Haploidentical Stem Cell Transplant with Post-Transplant Cyclophosphamide in Pediatric Hemophagocytic Lymphohistiocytosis.

PURPOSE: Primary hemophagocytic lymphohistiocytosis is a severe and uncommon disease affecting pediatric patients. Genetic abnormalities have been related to altered apoptosis and exaggerated inflammatory reactions. Chemoimmunotherapy and stem cell transplantation are treatment options, but transplant is the only curative treatment. Here we aim to describe the treatment with hematopoietic stem cell transplantation with a novel strategy and the outcomes. METHODS: An observational, descriptive, case series study was performed in pediatric patients of two high complexity medical centers in Colombia. Data was collected retrospectively between 2015 and 2020. RESULTS: We describe five pediatric cases with a diagnosis of primary hemophagocytic lymphohistiocytosis. All were treated with replete-cell haploidentical hematopoietic stem transplantation, reduced-intensity conditioning, and post-transplant cyclophosphamide, in two high-complexity centers in Colombia. All patients are alive, and one is receiving management for chronic graft-versus-host disease. CONCLUSION: To the best of our knowledge, there are few reports in the literature with this strategy, promising a possible alternative when there are no other donor options.

Pediatric hemophagocytic lymphohistiocytosis: A rarely diagnosed entity in a developing country.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is an exaggerated inflammatory reaction secondary to a host's inadequate immune response causing a self-perpetuating loop of altered regulation. Signs and symptoms of HLH are compatible with other common diseases and are nonspecific. Underdiagnosis makes it difficult to estimate the real incidence of HLH, especially in developing countries. METHODS: Retrospective, descriptive study of pediatric patients admitted to a high-complexity institution in Cali, Colombia between 2012 and 2019 with HLH diagnosis. Medical history review to complete an electronic database and a secondary, descriptive analysis was carried out. The study was approved by the Institutional Ethics Committee. RESULTS: Twenty-one patients were included. 52.4 % of the population was male with a median age of 9.3 years [IQR (3.0-13.7 years)]. More than half of patients (66.6 %) had viral disease at diagnosis, the most frequent being Epstein-Barr Virus (EBV) (52.3 %) and dengue (14.3 %). Three patients had confirmed gene mutations (G6PC3, XIAP, and UNC13D). 95 % of the patients were treated with the HLH 2004 protocol, half of them received incomplete protocol with intravenous immunoglobulin (IVIG) and/or systemic steroids, while the other half received the complete protocol including etoposide and cyclosporine. More than three-fourths (76.2 %) required admission to an ICU with a median stay of 14 days [IQR (11-37 days)] and a median hospital stay of 30 days [IQR (18-93 days)]. 14.3 % (n = 3) of patients died. CONCLUSIONS: HLH is a complex disease that requires multidisciplinary management with secondary HLH due to EBV infection being a common cause. There is increasing awareness of HLH diagnosis in developing countries such as Colombia which can offer earlier treatment options and better outcomes.

Association between fractional exhaled nitric oxide and therapeutic adherence to controller management in pediatric asthma patients.

OBJECTIVES: Guidelines for asthma management recommend, before establishing additional therapeutic behaviors, to confirm correct use and adequate therapeutic adherence to treatment. Evidence exists on the use of fractional exhaled nitric oxide (FeNO) values for monitoring therapeutic adherence in adults. It is important to establish whether there is a correlation between FeNO and therapeutic adherence in children. This study aims to provide new knowledge about the relationship between FeNO and therapeutic adherence in asthmatic children. MATERIALS AND METHODS: Analytical cross-sectional study including asthma patients 5-18 years of age, attending follow-up at Hospital Militar Central (HMC) between May and November 2022 in Colombia. A sociodemographic survey was carried out, followed by the Pediatric Inhaler Adherence Questionnaire (PIAQ), and asthma control test (ACT) or childhood asthma control test (cACT). We defined adequate therapeutic adherence as not missing a single application of inhaled steroids in the last 15 days according to PIAQ. A poisson regression model was carried out including relevant predictors for therapeutic adherence such as FeNO values, age, tobacco exposure at home, atopy, and time since initiation of use of inhaled controller. RESULTS: Eighty-two children with a median age of 10 years (interquartile range: 7-12 years) were included. Adequate therapeutic adherence was reported by 68.3%. After adjusting for age, sex, exposure to cigarette smoke, duration of controller therapy, and atopy, FeNO < 20 ppb was independently associated with adequate therapeutic adherence (RR = 1.5, p = .04, 95% confidence interval: 1.03-2.19). CONCLUSIONS: FeNO values seem to be useful to identify pediatric patients with asthma who have adequate adherence to inhaled steroids in a MIC.

Grief and Bereavement Support for Parents in Low- or Middle-Income Countries: A Systematic Review.

INTRODUCTION: The death of a child may be the most traumatic event a family can experience. Bereavement care for parents is essential for their physical and mental well-being and is a psychosocial standard of care. Childhood mortality is higher in low- or middle-income countries (LMICs); however, little is known regarding bereavement support or interventions for parents in LMICs. AIM: To identify programs, services, initiatives, or interventions offered to bereaved parents in LMICs in hospital settings. METHODS: A systematic search was executed following the Preferred Reported Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Articles from LMICs describing interventions, programs, or resources provided to parents after the death of a child (0-18 years old) from any cause were included. Extracted data was categorized by demographics, study design, outcomes, and quality assessment using the McGill Mixed Methods Appraisal Tool (MMAT). RESULTS: We retrieved 4428 papers and screened their titles and abstracts, 36 articles were selected for full-text assessment, resulting in nine articles included in the final analysis. Most interventions described support for parents whose child died during the prenatal or neonatal period. The primary interventions included psychological counseling, creating mementos (such as photographs or footprints), and bereavement workshops. Only one paper described a fully established bereavement program for parents. Eight of the papers met high-quality criteria. DISCUSSION: Although bereavement care is crucial for parents whose child has died, only a few studies have documented bereavement interventions in LMICs. More research may help with bereavement program implementation and improved care for bereaved parents in LMICs.

Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia.

BACKGROUND: The current literature describes the characteristics of some skin manifestations in the context of primary immunodeficiency diseases (PIDs), also known as inborn errors of the immune system. However, there are hardly any data on the epidemiological trends of skin manifestations and PIDs in Latin America (LA). We aimed to describe the characteristics of patients with skin manifestations and the diagnosis of a PID treated at a tertiary hospital in Colombia. METHODS: This was a retrospective observational study. Data were taken from the institutional database of pediatric PIDs, which includes 306 patients under 18 years of age who attended a tertiary care center in Cali, Colombia for inpatient or outpatient services between December 2013 and December 2018. A trained third-year dermatology resident reviewed the electronic clinical records of all the patients in the database and double-checked patients who presented with cutaneous signs and symptoms. RESULTS: A total of 83 patients out of the original 306 patients (27.1%) presented with some type of cutaneous manifestation. Of these patients, 56.6% had atopic dermatitis, 56.6% reported at least one episode of skin infection, and some of the patients had both of these manifestations. Infections were more frequent in the PID group of combined immunodeficiency associated with well-defined syndromes and atopic dermatitis in the group of antibody deficiencies. CONCLUSIONS: It is important to recognize dermatological clinical characteristics in patients with PIDs. More studies are necessary to establish recommendations regarding the approach of diagnosis and management of these patients.

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.

INTRODUCTION: X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosphate equilibrium, which is essential for bone formation. CASE REPORT: A female patient presented with bone deformities of the inferior extremities, prominent joints, and loss of teeth. She received initial management with oral calcium and orthotics in inferior extremities, with poor clinical outcome. PHEX gene sequencing revealed a pathogenic variant c.1601C>T (p.Pro534Leu). DISCUSSION: XLHR is caused by mutations in the PHEX gene; to date, more than 460 mutations have been associated with the disease. Clinically, it is characterized by bowing of the lower extremities, decreased growth, musculoskeletal complaints, dental abscesses, and other clinical signs and symptoms of rickets.

[Characterization of children younger than five years with suspected allergic diseases]. / Caracterización de los niños menores de cinco años con sospecha de enfermedades alérgicas.

BACKGROUND: Symptoms of allergic diseases are a common cause of consultation during childhood. OBJECTIVE: To describe the profile of a population of Colombian preschool children seen in an allergology department and assess possible risk factors. METHODS: Descriptive, cross-sectional study of patients younger than 5 years who were assessed for one year. A complete medical history was obtained and allergology workup was carried out with skin prick tests as appropriate for each case. Risk factors were assessed by means of multivariate analysis. RESULTS: A total of 674 patients were included, out of which 382 (52.7%) were males. Median age was 34 months. The reasons for consultation were cough or recurrent wheezing (54.3%), rhinitis (48.7%), and eczema (32.2%). Skin prick tests were performed with aeroallergens in 299 patients (48%) and with food in 170 (27%), with positivity being found in 114 (38%) and 16 (9.4%), respectively. Main sensitizers were dust mites and egg. A direct association was found between eczema and prematurity (OR = 0.496; 95 % CI = 0.289-0.823)], between recurrent cough/wheezing and family history of allergy (OR = 1.837; 95 % CI = 1,306-2,586), and between recurrent cough/wheezing and history of bronchiolitis (OR = 2.646; 95 % CI = 1.812-3.886). CONCLUSION: Respiratory symptoms represented the main cause of consultation. Dust mites were the most commonly identified allergens. Family history of allergy and bronchiolitis.

Antecedentes: Los síntomas de enfermedad alérgica constituyen una causa frecuente de consulta en la infancia. Objetivo: Describir el perfil de una población de preescolares colombianos atendidos en un servicio de alergología y evaluar los posibles factores de riesgo. Métodos: Estudio descriptivo trasversal de pacientes menores de cinco años evaluados durante un año. Se realizó historia clínica completa y estudio alergológico con pruebas cutáneas según el caso. Se analizaron factores de riesgo mediante análisis multivariado. Resultados: Se incluyeron 674 pacientes, 382 (52.7 %) hombres. La mediana de edad fue 34 meses. Los motivos de consulta fueron tos o sibilancias recurrentes (54.3 %), rinitis (48.7 %) y eccema (32.2 %). Se realizaron pruebas cutáneas con aeroalérgenos a 299 pacientes (48 %) y con alimentos a 170 (27 %), encontrando positividad en 114 (38 %) y 16 (9.4 %), respectivamente. Los principales sensibilizadores fueron los ácaros y el huevo. Se encontró asociación directa entre eccema y prematurez (OR = 0.496; IC 95 % = 0.289-0.823), tos/sibilancias recurrentes e historia familiar de alergia (OR = 1.837; IC 95 % = 1.306-2.586), y tos/sibilancias recurrentes y antecedente de bronquiolitis (OR = 2.646; IC 95 % = 1.812-3.886). Conclusión: Los síntomas respiratorios representaron la principal causa de consulta. Los ácaros fueron los alérgenos más identificados. La historia familiar de alergia y la bronquiolitis parecen ser factores de riesgo.

Small vessel vasculitis, different renal outcomes in pediatric patients. Case reports

Vasculitis mainly affects the walls of the blood vessels, and is an uncommon disease in the pediatric population. In general, they are classified according to the EULAR / PreS consensus in children and in adults according to the Chapel-Hill consensus conference. ANCA-associated vasculitis (AAV) is part of small-vessel disease and is represented by granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), microscopic polyangiitis (MPA), and others. The representative renal histopathological findings are focal necrotizing glomerulonephritis with crescents, variable interstitial inflammation, absence of immune complexes, or small deposits of immunoglobulins. Clinically, AAV can manifest with hematuria, proteinuria, high blood pressure, and/or rapidly progressive glomerulonephritis. GPA can severely affect the kidney in 75% of cases. In MPA, renal involvement (75-90%) can be rapid and severe with the possibility of requiring renal replacement therapy in more than half of the patients. Furthermore, up to 25% of patients may have high blood pressure, and the mortality at one year can be up to 85%. In EGPA the renal involvement is usually mild. Three pediatric cases of AAV with different renal outcomes are presented, including the need for renal replacement therapy with the recovery of renal function, kidney transplantation, and death, followed in a fourth level of care institution in Colombia.

Las vasculitis, patologías cuyo hallazgo principal es la afectación de las paredes de los vasos sanguíneos, se presentan de forma infrecuente en la población pediátrica. En general, en niños se clasifican de acuerdo con el consenso de la EULAR/PReS, y en adultos, según la Conferencia de Consenso de Chapel-Hill. Las vasculitis asociadas con ANCA (VAA) hacen parte de las vasculitis de pequeños vasos y están representadas por la granulomatosis con poliangeítis (GPA), la granulomatosis eosinofílica con poliangeítis (EGPA) y la poliangeítis microscópica (PAM), entre otras. A nivel renal, los hallazgos histopatológicos representativos son la glomerulonefritis focal necrotizante con media luna, inflamación intersticial variable, ausencia de complejos inmunes o pequeños depósitos de inmunoglobulinas. Clínicamente, las VAA pueden manifestarse con hematuria, proteinuria, hipertensión arterial o glomerulonefritis rápidamente progresiva. La GPA puede afectar de forma severa el riñón en el 75% de los casos, mientras que, en la PAM, el compromiso renal (75-90%) puede ser rápido y severo con posibilidad de requerir terapia de reemplazo renal en más de la mitad de los pacientes. Además, hasta el 25% de los casos puede tener hipertensión arterial, con una mortalidad a un ario de 85%. En la EGPA, el compromiso renal suele ser leve. Se presentan 3 casos pediátricos de VAA con diferentes desenlaces renales, que incluyen necesidad de terapia de reemplazo renal con recuperación de función renal, trasplante renal y muerte, seguidas en una institución de IV nivel del suroccidente colombiano.

Pediatric trauma at a general hospital in Cali, Colombia.

BACKGROUND: Trauma is an important cause of morbidity and mortality in children. Blunt trauma is the most common type and falls and road traffic injuries (RTI) are the most frequent mechanisms. METHODS: Secondary analysis of institutional data included within the Panamerican Society of Trauma Registry (STP-ITSDP). A total of 581 trauma patients younger than 18years, hospitalized between 2012 and 2014, were included. RESULTS: Blunt trauma (BT) (68%) was the most common type, and falls (42.5%) the most common mechanism. Median age was: 14years for penetrating trauma (PT), 8years for BT, and 5.5years for other types of trauma (OT). Of all patients, 8.1% had a Glasgow score<8, 9% had a Glasgow score of 8-13 and 81.1% had a Glasgow score higher than 14. Death occurred in 5.2% of patients: 83.3% as inpatients and 16.7% during initial management in the emergency room (ER). Patients dying in the ER were mostly PT victims, with higher ISS and lower Glasgow scores. CONCLUSIONS: Trauma is an important cause of morbidity and mortality in our pediatric population. Fundación Valle de Lili (FVL), a referral hospital, receives a high number of trauma patients from southwestern Colombia. Detailed knowledge of epidemiological data will help us to develop rapid response strategies for patients with trauma and to develop prevention and promotion programs.

Infarto de miocardio con arterias coronarias no obstruidas en pediatría: una afección poco conocida / Myocardial infarction with unobstructed coronary arteries in pediatrics: a little-known entity

Resumen El infarto de miocardio con arterias coronarias no obstruidas (MINOCA, por sus siglas en inglés) ha ganado importancia en los últimos 20 años gracias a la dilucidación de etiologías fisiopatológicas diferentes de las causas obstructivas del flujo coronario. Diversos estudios han evidenciado una prevalencia variable, la cual es más alta en las mujeres. Se han descrito dos grupos de alteraciones en la reactividad coronaria que afectan el flujo: las causas epicárdicas y las causas microvasculares. El diagnóstico de MINOCA es de exclusión; por lo tanto, inicialmente se deben descartar otras posibles causas de isquemia, como miocarditis, miocardiopatía séptica, choque hipovolémico por trauma o quemaduras, y enfermedades renales o pulmonares. Los reportes y estudios de esta enfermedad suelen incluir pacientes adultos o mayores de 18 años. Se presenta el caso de una paciente de 16 años con antecedente de tetralogía de Fallot corregida en etapa de lactante menor y reemplazo valvular pulmonar con bioprótesis y ampliación del tronco pulmonar a los 11 años, quien ingresó con dolor torácico de características coronarias. Cursó con un diagnóstico de MINOCA por exclusión en una institución de cuarto nivel en Cali, Colombia. El diagnóstico de MINOCA en edad pediátrica es raro; sin embargo, es importante saber acerca de su existencia para brindar a los pacientes el mejor manejo disponible, de manera que se aseguren los mejores desenlaces a largo plazo.

Abstract Myocardial infarction with non-obstructed coronary arteries (MINOCA) has gained importance in the last 20 years, due to the elucidation of physiopathological etiologies different from the obstructive causes of coronary flow. Different studies have shown variable prevalence, being higher in women. Different causes have been evidenced in the studies found in two groups of alterations in coronary reactivity: epicardial causes and microvascular causes. The diagnosis of MINOCA must be a diagnosis of exclusion. Therefore, other possible causes of ischemia, such as myocarditis, septic cardiomyopathy, hypovolemic shock due to trauma or burns, renal or pulmonary diseases, should be ruled out initially. The reports and studies done around this pathology usually include adult patients and people older than 18 years. We present the case of a 16-year-old patient with a history of Tetralogy of Fallot corrected as an infant and pulmonary valve replacement with bioprothesis and enlargement of the pulmonary trunk at 11 years of age who was admitted with chest pain of coronary characteristics. The diagnosis after multiples studies and exclusion of other causes was MINOCA in a fourth level institution in Cali, Colombia.