Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Golgi apparatus (GA), and the vesicular trafficking from the ER to the ER-Golgi intermediate compartment (ERGIC) have been found to be associated with CDG. Here, we report a patient with defects in both N- and O-glycosylation combined with a delayed vesicular transport in the GA due to mutations in TRAPPC11, a subunit of the TRAPPIII complex. TRAPPIII is implicated in the anterograde transport from the ER to the ERGIC as well as in the vesicle export from the GA. This report expands the spectrum of genetic alterations associated with CDG, providing new insights for the diagnosis and the understanding of the physiopathological mechanisms underlying glycosylation disorders.

Epidemiología de las enterobacterias productoras de bacteriemias en los pacientes de una unidad de cuidados intensivos neonatal / Epidemiology of enterobacteriaceae causing bloodstream infections in neonatal intensive care unit patients

Introducción El número de neonatos que requiere cuidados intensivos está aumentando y estos pacientes poseen un elevado riesgo de desarrollar infecciones. La Escherichia coli, la Klebsiella spp. y la Enterobacter cloacae son las enterobacterias más frecuentemente relacionadas con las infecciones asociadas a cuidados sanitarios (IACS) en unidades de cuidados intensivos neonatales (UCIN).MétodosSe estudiaron 84 bacteriemias por E. cloacae, E. coli y Klebsiella spp. en 80 neonatos de la UCIN y la unidad de cuidados intermedios durante el período enero 2001–diciembre 2005. Se revisaron las historias clínicas para extraer los datos demográficos de mayor interés. Para la identificación y el antibiograma se utilizaron tarjetas GN VITEK® 2 y AST_N057 VITEK® 2 (bioMérieux, Marcy l’Etoile, Francia). La tipificación molecular se realizó mediante macrorrestricción y electroforesis en campo pulsante (PFGE).ResultadosSe diagnosticaron 21 bacteriemias comunitarias y 63 IACS. No se encontraron diferencias significativas en estas bacteriemias comunitarias según el peso al nacer y la edad gestacional de los neonatos en las que se produjeron. En las IACS sí se encontraron diferencias significativas, se produjo una mayor proporción en neonatos entre 1.001 y 1.500 g de peso al nacer y de 36 semanas o menos de gestación (p<0,001). Mediante PFGE, la gran mayoría de las cepas de E. coli pertenecían a clones diferentes. En las cepas de Klebsiella pneumoniae y E. cloacae se detectaron cepas con elevado porcentaje de similitud, y destaca la detección de un brote por E. cloacae. Conclusión El estudio nos ha permitido conocer mejor las bacteriemias producidas por enterobacterias en las UCIN de nuestro hospital desde un punto de vista epidemiológico y clonal (AU)

Introduction An increasing number of neonates require intensive care, and this population has a high risk of developing infections. The Enterobacteriaceae most commonly related to healthcare-associated infection in neonatal intensive care units (NICU) are Escherichia coli, Klebsiella spp and Enterobacter cloacae. Methods From January 2001 to December 2005, 84 bloodstream infections caused by E. cloacae, E. coli and Klebsiella spp. were studied in 80 neonates hospitalized in the NICU and intermediate care unit. Clinical histories were reviewed to extract the most important demographic data. Identification and susceptibility patterns were carried out with GN VITEK® 2 and AST_N057 VITEK® 2 (bioMérieux, Marcy l’Etoile, France). Molecular typing was performed by macrorestriction and pulsed-field gel electrophoresis (PFGE).Results Twenty-one community bloodstream infections and 63 healthcare-associated infections were diagnosed. In community bloodstream infections there were no significant differences according to birth weight or gestational age of the neonates. In healthcare-associated infection, however, there was a high percentage of neonates whose birth weight was between 1.001 and 1.500 grams and gestational age ≤36 weeks (P<0.001). On PFGE analysis, the majority of E. coli strains belonged to different clones. Among Klebsiella pneumoniae and E. cloacae isolates, some strains showed a high percentage of similarity, highlighting detection of an E. cloacae outbreak. Conclusion The study has provided better knowledge of bloodstream infections caused by Enterobacteriaceae in the NICU of our hospital from both the epidemiological and clonal standpoints (AU)

[Epidemiology of enterobacteriaceae causing bloodstream infections in neonatal intensive care unit patients]. / Epidemiología de las enterobacterias productoras de bacteriemias en los pacientes de una unidad de cuidados intensivos neonatal.

INTRODUCTION: An increasing number of neonates require intensive care, and this population has a high risk of developing infections. The Enterobacteriaceae most commonly related to healthcare-associated infection in neonatal intensive care units (NICU) are Escherichia coli, Klebsiella spp and Enterobacter cloacae. METHODS: From January 2001 to December 2005, 84 bloodstream infections caused by E. cloacae, E. coli and Klebsiella spp. were studied in 80 neonates hospitalized in the NICU and intermediate care unit. Clinical histories were reviewed to extract the most important demographic data. Identification and susceptibility patterns were carried out with GN VITEK 2 and AST_N057 VITEK 2 (bioMérieux, Marcy l'Etoile, France). Molecular typing was performed by macrorestriction and pulsed-field gel electrophoresis (PFGE). RESULTS: Twenty-one community bloodstream infections and 63 healthcare-associated infections were diagnosed. In community bloodstream infections there were no significant differences according to birth weight or gestational age of the neonates. In healthcare-associated infection, however, there was a high percentage of neonates whose birth weight was between 1.001 and 1.500 grams and gestational age < or =36 weeks (P<0.001). On PFGE analysis, the majority of E. coli strains belonged to different clones. Among Klebsiella pneumoniae and E. cloacae isolates, some strains showed a high percentage of similarity, highlighting detection of an E. cloacae outbreak. CONCLUSION: The study has provided better knowledge of bloodstream infections caused by Enterobacteriaceae in the NICU of our hospital from both the epidemiological and clonal standpoints.