Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia.

The most common causes of congenital neutropenia are mutations in the ELANE (Elastase, Neutrophil Expressed) gene (19p13.3), mostly in exon 5 and the distal portion of exon 4, which result in different clinical phenotypes of neutropenia. Here, we report two pathogenic mutations in ELANE, namely, c.607G>C (p.Gly203Arg) and a novel variant c.416C>G (p.Pro139Arg), found in two Mexican families ascertained via patients with congenital neutropenia who responded positively to the granulocyte colony-stimulating factor (G-CSF) treatment. These findings highlight the usefulness of identifying variants in patients with inborn errors of immunity for early clinical management and the need to rule out mosaicism in noncarrier parents with more than one case in the family.

Bacteriemia relacionada con catéter venoso central: incidencia y factores de riesgo en un hospital del occidente de México / Central venous-catheter related bacteremia: incidence and risk factors in a hospital in western México

Resumen: Introducción: El catéter venoso central (CVC) es necesario para la monitorización y tratamiento de pacientes en estado crítico; sin embargo, su uso incrementa el riesgo de bacteriemia. El objetivo del estudio fue cuantificar la incidencia de bacteriemia relacionada con catéter venoso central (BRCVC) e identificar los factores asociados con esta infección. Métodos: Se realizó un estudio de cohorte prospectivo en un hospital de concentración del occidente de México. Para conocer la asociación entre BRCVC y las variables en estudio, se realizó un análisis multivariado con regresión de Cox. Resultados: Se estudiaron 204 pacientes con CVC. La edad promedio fue de 4.6 años; el 66.2% fue del sexo masculino. Los sitios de inserción del catéter fueron la vena subclavia (72.5%, n = 148), la vena yugular (20.1%, n = 41) o la vena femoral (7.4%, n = 15). La incidencia de BRCVC fue de 6.5 eventos por 1,000 días catéter. Los microorganismos identificados fueron cocos Gram positivos (37.5%, n = 6), bacilos Gram negativos (37.5%, n = 6) y Candida albicans (25%, n = 4). Se observó que la mayor manipulación del catéter por día se asoció con bacteriemia (HR 1.14, IC95% 1.06-1.23), mientras que el uso de antibióticos intravenosos mostró un efecto protector (HR 0.84, IC95% 0.76-0.92). Conclusiones: Además de las medidas máximas de precaución al momento de colocar o manipular el catéter, es conveniente disminuir lo más posible las desconexiones entre el equipo de venoclisis y el CVC. Los antibióticos mostraron un efecto protector; sin embargo, se debe considerar el riesgo de favorecer resistencias antimicrobianas.

Abstract: Background: Central venous catheters (CVC) are needed for monitoring and treatment of critically ill patients; however, their use increases the risk of bacteremia. The aim of the study was to quantify the incidence of central venous catheter-related bacteremia (CVCRB) and to identify factors associated with this infection. Methods: A prospective cohort study was conducted in a concentration hospital of western Mexico. The association of CVCRB and study variables was investigated using multivariate Cox regression analysis. Results: Two hundred four patients with CVC were studied. The average age was 4.6 years; 66.2% were male. Insertion sites of the catheters were subclavian vein 72.5% (n = 148), jugular vein 20.1% (n = 41) and femoral vein 7.4% (n = 15). CVCRB incidence was 6.5 events/1,000 catheter days; microorganisms identified were gram-positive cocci 37.5% (n = 6), gram-negative bacilli 37.5% (n = 6) and Candida albicans 25% (n = 4). It was observed that the increase in catheter manipulations per day was associated with bacteremia (HR 1.14, 95% CI 1.06 - 1.23), whereas the use of intravenous antibiotics showed a protective effect (HR 0.84, 95% CI 0.76-0.92). Conclusions: In addition to strategies of maximum caution when placing or manipulating the catheter, we recommend decreasing, as much as possible, disconnects between the CVC and infusion line. Antibiotics showed a protective effect, but the outcome is uncertain and promotion of antimicrobial resistance should be considered.

[Central venous-catheter related bacteremia: incidence and risk factors in a hospital in western México]. / Bacteriemia relacionada con catéter venoso central: incidencia y factores de riesgo en un hospital del occidente de México.

BACKGROUND: Central venous catheters (CVC) are needed for monitoring and treatment of critically ill patients; however, their use increases the risk of bacteremia. The aim of the study was to quantify the incidence of central venous catheter-related bacteremia (CVCRB) and to identify factors associated with this infection. METHODS: A prospective cohort study was conducted in a concentration hospital of western Mexico. The association of CVCRB and study variables was investigated using multivariate Cox regression analysis. RESULTS: Two hundred four patients with CVC were studied. The average age was 4.6 years; 66.2% were male. Insertion sites of the catheters were subclavian vein 72.5% (n = 148), jugular vein 20.1% (n = 41) and femoral vein 7.4% (n = 15). CVCRB incidence was 6.5 events/1,000 catheter days; microorganisms identified were gram-positive cocci 37.5% (n = 6), gram-negative bacilli 37.5% (n = 6) and Candida albicans 25% (n = 4). It was observed that the increase in catheter manipulations per day was associated with bacteremia (HR 1.14, 95% CI 1.06 - 1.23), whereas the use of intravenous antibiotics showed a protective effect (HR 0.84, 95% CI 0.76-0.92). CONCLUSIONS: In addition to strategies of maximum caution when placing or manipulating the catheter, we recommend decreasing, as much as possible, disconnects between the CVC and infusion line. Antibiotics showed a protective effect, but the outcome is uncertain and promotion of antimicrobial resistance should be considered.