RESUMEN
Sternal osteitis, a potential consequence of cardiac surgery, remains rare. The bacteria involved belong mostly to the genus Staphylococcus. Sternal infections caused by Serratia marcescens are exceptional. We report an unusual recurrence of sternal infection with S. marcescens, 15 years after the initial episode. The identities of the isolates were determined by genomic analysis.
Asunto(s)
Osteítis/diagnóstico , Osteítis/microbiología , Infecciones por Serratia/diagnóstico , Infecciones por Serratia/microbiología , Serratia marcescens/aislamiento & purificación , Análisis por Conglomerados , ADN Bacteriano/genética , Electroforesis en Gel de Campo Pulsado , Genotipo , Humanos , Masculino , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Tipificación Molecular , Osteítis/patología , Recurrencia , Infecciones por Serratia/patología , Esternón/microbiología , Esternón/patologíaRESUMEN
This paper reports the case of an infant presenting with sexual ambiguity at birth. The child presented with labia majora synechia, thready genital tubercle and perineal hypospadias. The karyotype was 46,XY. Low testosterone levels with no response to hCG administration, associated with high LH level for her age, high FSH level, high inhibin B levels and normal AMH indicated a lack of LH receptivity and prompted us to screen the LHCGR gene for mutations. A previously described missense mutation (p.Cys131Arg) was identified at homozygous state in the propositus and at heterozygous state in the mother. This variation, however, was not found in the father. Our attention was drawn by the presence of several single nucleotide polymorphisms (SNPs), identified at homozygous state without any paternal contribution from exon 1 to exon 10 of LHCGR, suggesting a paternal deletion. Array DNA analysis was performed revealing a large deletion extending from 61,493 to 135,344 bp and including the LHCGR gene. Adequate genetic counselling was provided. This paper describes the first application of prenatal diagnosis in LHCGR deficiency for 46,XY disorders of sex development with the subsequent delivery of a normal baby.
Asunto(s)
Trastorno del Desarrollo Sexual 46,XY/genética , Receptores de HL/genética , Eliminación de Secuencia , Secuencia de Bases , Preescolar , Hibridación Genómica Comparativa , ADN/química , ADN/genética , Trastorno del Desarrollo Sexual 46,XY/sangre , Estradiol/sangre , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Hormona Luteinizante/sangre , Masculino , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal/métodos , Análisis de Secuencia de ADN , Testosterona/sangreRESUMEN
A study was carried out in 2008 at the university hospital of Nantes to determine a target for the consumption of alcohol-based disinfectants per patient and per day of hospitalisation. The study involved healthcare professionals and was based on a methodological double approach of self-estimation and analysis of nursing records.
Asunto(s)
Desinfectantes , Adhesión a Directriz/estadística & datos numéricos , Desinfección de las Manos , Francia , Desinfección de las Manos/normas , HumanosRESUMEN
We investigated the prevalence and epidemiology of AmpC plasmidic cephalosporinases in Escherichia coli clinical strains resistant to third-generation cephalosporins during a 5-year period at Nantes University Hospital, France (3100 beds). The prevalence and diversity of plasmidic cephalosporinase did not increase during the study period (0.09% of 25 861 E. coli isolates); only CMY-2 producers were detected (and 1 new variant, with a Y-to-C substitution at position 219). CMY-2-producing strains belonged to the 4 main phylogenetic groups and to 11 different sequence types. Three sequence types included more than 1 isolate (ST156, ST46, and ST354).
