Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility.

Introduction: The transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals.

Objective: We aimed to investigate and characterize two unrelated patients with Epstein-Barr virus susceptibility and no known genetic etiology.

Methods: After informed consent, we reviewed the electronic charts, extracted genomic DNA, performed whole-exome sequencing, filtered, and prioritized their variants, and confirmed through Sanger sequencing, family segregation analysis, and some functional assays, including lymphoproliferation, cytotoxicity, and characterization of natural killer cells.

Invasive Pneumococcal Disease Characterization in Adults and Subgroups aged < 60 years and ≥ 60 years in Bogota, Colombia.

Background: There is scarce information on the burden of invasive pneumococcal disease (IPD) among adults in low- and middle-income countries. This study aimed to describe the clinical outcomes and microbiological characteristics associated with IPD in adults and subgroups aged 18-59 years and ≥60 years in Colombia.

Methods: A retrospective chart review study was conducted in five institutions of Bogotá from January 2011 to December 2017.

Clinical Outcomes of Unrelated Umbilical Cord Blood Graft vs. Haploidentical Donor Transplantation: Critical Issues for an Adequate Comparison.

Unrelated umbilical cord blood (UCB) and haploidentical grafts have been used for allogeneic hematopoietic stem and progenitor cell (HSPC) transplantation in patients without a related or non-related human leukocyte antigen (HLA)-matched donor. The less stringent HLA-matching requirement in both sources raises an important possibility for patients in need of urgent transplantation to treat any hematological disease. Selection of the best alternative donor is a difficult task that will depend on donor criteria, center experience, patient disease conditions, and risk, among others.

Clinical and Epidemiologic Analysis of COVID-19 Children Cases in Colombia PEDIACOVID.

Objective: The COVID pandemic has affected Colombia with a high number of cases and deceases; however, no studies have been published regarding pediatric population. An epidemiologic analysis of the nationwide COVID register, therefore, is necessary to outline and describe the impact in such population.

Methods: A retrospective analysis was made of the characteristics of a cohort of 5062 patients <18 years of age, until June 16, 2020, reported at the National Institute of Health-INS (https://www.

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.

[Video-assisted sigmoidectomy as an option for Sigmoid volvulus management in the pediatric population].

Introduction: The aim of the present study was to evaluate clinical presentation and management of sigmoid volvulus in children. Sigmoid volvulus is one of the three leading causes of acute obstruction of the colon and is between 50 and 90% of all large bowel volvulus. In the pediatric population only 3 to 5% of bowel obstructions are caused by volvulus and there are less than 100 cases reported in the literature.

[Enterocolitis associated with Hirschsprung's Disease. Experience in a pediatric teaching hospital].

Hirschsprung's associated enterocolitis (HAEC) is the most serious and potentially fatal complication of the disease, with a significant morbidity and mortality. The effect of HAEC varies remarkably among the publications since the lack of consensus and the absence of established diagnostic criteria. Patients diagnosed with Hirschsprung's disease (HD) were selected and treated between January 2009 and December 2012 in Fundación HOMI, finding 41 cases of HD, 6 of them with total aganglionosis.

[Magnet intestinal lesions. Case series].

The ingestion of foreign bodies is a common trouble in the pediatric population, and most of cases occur between 6 months and 3 years. In general the vast majority of foreign bodies are not associated with morbidity or mortality. Ingestion of two or more magnets can lead to obstruction, fistulas, ulceration, perforation and bowel volvulus.