Enfermedad de Erdheim-Chester: primer caso pediátrico reportado en Colombia

The Erdheim-Chester’s disease is extremely rare in children. We present the case of a 12-year-old girl with histological and radiological diagnosis of this disease and mutation of the BRAF gene, who developed multisystemic compromise requiring treatment with dabrafenib.We identified 22 reports of this condition among children worldwide and this is the second pediatric case in Latin America. Diagnostic imaging is critical to confirm Erdheim-Chester disease and for the surgical planning of the biopsy. Additionally, we identified the parasellar dark sign, which has previously been reported on lymphocytic hypophysitis.This report contributes to the current practice as it shows the clinical presentation and the diagnostic workout of this disease in pediatrics.La enfermedad de Erdheim-Chester es una condición extremadamente rara en la edad pediátrica. Se presenta el caso de una niña de 12 años con diagnóstico histológico y radiológico de enfermedad de Erdheim-Chester multisistémica y mutación en el gen BRAF, que requirió tratamiento con dabrafenib.Hasta el momento, se han reportado 22 casos pediátricos en el mundo y este es el segundo en Latinoamérica. Se observó el hallazgo radiológico denominado signo oscuro paraselar, descrito hasta ahora en pacientes con hipofisitis autoinmunitaria para diferenciarlos de aquellos con adenomas hipofisarios.Este reporte contribuye a la literatura médica en dos aspectos fundamentales: las manifestaciones clínicas de la enfermedad y su diagnóstico en la población pediátrica

Tumores germinales gonadales en niños: experiencia de 20 años en un centro de referencia pediátrico.

Antecedentes. Los tumores de células germinales son un grupo heterogéneo de neoplasias que corresponden al 1-3% de los tumores en pediatría. Por lo general, se manifiestan clínicamente con masa testicular o dolor abdominal.Objetivo. Describir las características de los pacientes con tumores germinales gonadales en un centro de referencia de cáncer pediátrico en Colombia.Materiales y métodos. Este artículo hace una revisión retrospectiva recopilando 20 años de experiencia en el diagnóstico y manejo de estos tumores en la Fundación Hospital de la Misericordia.Resultados. Se encontraron 79 pacientes, 35 hombres y 44 mujeres, con un promedio de edad, al diagnóstico, de 6 años. El teratoma fue la neoplasia más frecuente en el sexo femenino y el tumor del seno endodérmico en el masculino. El 70,9% de los pacientes se diagnosticaron en estadio I; se tienen datos de marcadores tumorales en 84,8%. El 98,7% se manejaron con cirugía y 58,2% recibieron además quimioterapia, especialmente protocolo BEP. 96% alcanzaron remisión de la enfermedad, 3 pacientes fallecieron.Conclusiones. El estudio demuestra buenos resultados en el manejo de los tumores germinales gonadales con el protocolo establecido de manejo quirúrgico y quimioterapia, se encontró una baja tasa de recurrencia en el periodo evaluado y alto porcentaje de niños libres de enfermedad.Background. Germ cell tumors are a heterogeneous group of neoplasms corresponding to 1-3% of pediatric tumors. They usually manifest clinically as testicular mass or abdominal pain.Objective. To make a description of gonadal germ cell tumor types in pediatric referral center in Colombia.Materials and methods. This article takes a retrospective review compiling 20 years of experience in diagnosis and management of these tumors in the Fundación Hospital de La Misericordia.Results. We found 79 patients, 35 men and 44 women, with an average age at diagnosis of 6 years. The teratoma was the most common neoplasia in females and endodermal sinus tumor in men. 70.9% of patients were diagnosed with stage I. In 84,8% measuring tumor markers were obtained. 98.7% were managed with surgery and 58.2% also received chemotherapy, especially BEP protocol. 96% achieved disease remission, 3 patients died.Conclusions. The study shows good results in the management of gonadal germ cell tumors with the established protocol and low recurrence rate in the evaluated period and high rates of children free of disease, were found a low rate of recurrence in the assessment period and high percentage of free of disease

Tumores germinales gonadales en niños: experiencia de 20 años en un centro de referencia pediátrico.

Antecedentes. Los tumores de células germinales son un grupo heterogéneo de neoplasias que corresponden al 1-3% de los tumores en pediatría. Por lo general, se manifiestan clínicamente con masa testicular o dolor abdominal.Objetivo. Describir las características de los pacientes con tumores germinales gonadales en un centro de referencia de cáncer pediátrico en Colombia.Materiales y métodos. Este artículo hace una revisión retrospectiva recopilando 20 años de experiencia en el diagnóstico y manejo de estos tumores en la Fundación Hospital de la Misericordia.Resultados. Se encontraron 79 pacientes, 35 hombres y 44 mujeres, con un promedio de edad, al diagnóstico, de 6 años. El teratoma fue la neoplasia más frecuente en el sexo femenino y el tumor del seno endodérmico en el masculino. El 70,9% de los pacientes se diagnosticaron en estadio I; se tienen datos de marcadores tumorales en 84,8%. El 98,7% se manejaron con cirugía y 58,2% recibieron además quimioterapia, especialmente protocolo BEP. 96% alcanzaron remisión de la enfermedad, 3 pacientes fallecieron.Conclusiones. El estudio demuestra buenos resultados en el manejo de los tumores germinales gonadales con el protocolo establecido de manejo quirúrgico y quimioterapia, se encontró una baja tasa de recurrencia en el periodo evaluado y alto porcentaje de niños libres de enfermedad.Background. Germ cell tumors are a heterogeneous group of neoplasms corresponding to 1-3% of pediatric tumors. They usually manifest clinically as testicular mass or abdominal pain.Objective. To make a description of gonadal germ cell tumor types in pediatric referral center in Colombia.Materials and methods. This article takes a retrospective review compiling 20 years of experience in diagnosis and management of these tumors in the Fundación Hospital de La Misericordia.Results. We found 79 patients, 35 men and 44 women, with an average age at diagnosis of 6 years. The teratoma was the most common neoplasia in females and endodermal sinus tumor in men. 70.9% of patients were diagnosed with stage I. In 84,8% measuring tumor markers were obtained. 98.7% were managed with surgery and 58.2% also received chemotherapy, especially BEP protocol. 96% achieved disease remission, 3 patients died.Conclusions. The study shows good results in the management of gonadal germ cell tumors with the established protocol and low recurrence rate in the evaluated period and high rates of children free of disease, were found a low rate of recurrence in the assessment period and high percentage of free of disease

Design and baseline characteristics of the finerenone in reducing cardiovascular mortality and morbidity in diabetic kidney disease trial

Background: Among people with diabetes, those with kidney disease have exceptionally high rates of cardiovascular (CV) morbidity and mortality and progression of their underlying kidney disease. Finerenone is a novel, nonsteroidal, selective mineralocorticoid receptor antagonist that has shown to reduce albuminuria in type 2 diabetes (T2D) patients with chronic kidney disease (CKD) while revealing only a low risk of hyperkalemia. However, the effect of finerenone on CV and renal outcomes has not yet been investigated in long-term trials. Patients and Methods: The Finerenone in Reducing CV Mortality and Morbidity in Diabetic Kidney Disease (FIGARO-DKD) trial aims to assess the efficacy and safety of finerenone compared to placebo at reducing clinically important CV and renal outcomes in T2D patients with CKD. FIGARO-DKD is a randomized, double-blind, placebo-controlled, parallel-group, event-driven trial running in 47 countries with an expected duration of approximately 6 years. FIGARO-DKD randomized 7,437 patients with an estimated glomerular filtration rate >= 25 mL/min/1.73 m(2) and albuminuria (urinary albumin-to-creatinine ratio >= 30 to <= 5,000 mg/g). The study has at least 90% power to detect a 20% reduction in the risk of the primary outcome (overall two-sided significance level alpha = 0.05), the composite of time to first occurrence of CV death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for heart failure. Conclusions: FIGARO-DKD will determine whether an optimally treated cohort of T2D patients with CKD at high risk of CV and renal events will experience cardiorenal benefits with the addition of finerenone to their treatment regimen. Trial Registration: EudraCT number: 2015-000950-39; ClinicalTrials.gov identifier: NCT02545049

Guía de práctica clínica para la prevención, diagnóstico, tratamiento y rehabilitación de la falla cardiaca en población mayor de 18 años, clasificación B, C y D

La falla cardíaca es un síndrome clínico caracterizado por síntomas y signos típicos de insuficiencia cardíaca, adicional a la evidencia objetiva de una anomalía estructural o funcional del corazón. Guía completa 2016. Guía No. 53Población mayor de 18 añosN/

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Intestinal mass in a one year old child: An unusual presentation of Strongyloides stercolaris infection. Case report

Intestinal strongyloidiasis is a common disease in the world. In children, the worldwide prevalence rates ranged from 0.6% to 5.3% [1]. In Colombia studies report a prevalence of 1.3% in children, although it may be higher [2]. The most frequent symptoms are abdominal pain, diarrhea and weight loss. However, on rare occasions the infection can cause duodenal obstruction, pyloric hypertrophy and colonic mass. This article reports the first case of a toddler who presented with a mass in the cecum as a manifestation of Strongyloides stercolaris infection, which required surgical resection as it was initially believed to be a Burkitt lymphoma

Procesos misionales

Uno de los principales obstáculos que enfrentan las organizaciones del Sector Salud es la ausencia de métodos y procesos documentados de forma ágil y actualizada. La falta de documentación no permite tener una memoria organizacional, concentrada en individuos aislados interpretando y aplicando cada cual los procesos a su manera. En estas circunstancias es muy difícil definir parámetros de rendimiento, establecer normas o definir metas de resultado, teniendo en cuenta que una de las quejas más frecuentes de los usuarios con respecto a la atención del servicio, son las demoras en la atención de sus citas, los interminables trámites que deben realizar estos para acceder a ciertos servicios, la falta de capacitación al personal en temas relacionados con la atención al usuario, hacen que las personas se sientan vulneradas y no satisfechas con el servicio prestado al no encontrar funcionarios dispuestos a escuchar y a solucionar sus inconvenientes.Edición 202

A case report of intestinal lymphangiectasia

A propósito del caso de un paciente de 7 meses de vida remitido desde Yopal a la ciudad de Bogotá, se revisa el tema de la linfagiectasia intestinal. Esta es una rara enfermedad que involucra los vasos linfáticos intestinales, y origina hipoproteinemia, edemas, ascitis y enteropatía perdedora de proteínas.This is the case report of a 7 month old child from Yopal with intestinal lymphangiectasia who was sent to Bogota. We also review the issue of intestinal lymphangiectasia, a rare disease involving intestinal lymphatic vessels which caused hypoproteinemia, edema, ascites and protein-losing enteropath

Thoracoscopic management of an esophageal lung, report of a case

Esophageal lung is a rare broncopulmonary foregut malformation, in which the main stem bronchus arises from the esophagus. Since the description by Keely et al. in 1960, less than 25 cases have been reported. We present a case of a 4-month-old female, who was referred to our institution after 2 months of management for respiratory recurrent infections. Contrast studies were performed during the evaluation and a right broncography was identified in the esophagogram. Bronchoscopy was performed confirming the atresic right bronchus. Complementary imaging and cardiology evaluation confirmed the absence of major vascular anomalies, especially a pulmonary artery sling that has been described in relation with this entity. Due to the hypoplastic lung in the absence of major vascular anomalies, thoracoscopic pneumonectomy was deemed possible. Procedure was performed with four ports and 3 mm equipment was used. Special attention was made identifying and dissecting the vascular structures first, and then the arising esophageal bronchus was dissected. The hypoplastic lung was extracted trough a small incision inferior to the axilla.We consider that due to the hypoplastic lung and vessels, the thoracoscopic approach is safe and feasible for the management of the esophageal lung and even for de esophageal bronchus in the absence of major vascular anomalies