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1.
Clin Microbiol Infect ; 22(3): 252-7, 2016 Mar.
Article de Anglais | MEDLINE | ID: mdl-26577139

RÉSUMÉ

The genus Raoultella was excised from Klebsiella in 2001, but difficulties in its identification may have led to an underestimation of its incidence and uncertainty on its pathogenic role. Recently, clinical reports involving Raoultella have increased, probably through the introduction of mass-spectrometry in clinical microbiology laboratories and the development of accurate molecular techniques. We performed a retrospective analysis using our blood culture collection (2011-14) to identify Raoultella isolates that could have been erroneously reported as Klebsiella. PCR and gene sequencing of highly specific chromosomal class A ß-lactamase genes was established as the reference method, and compared with 16S rRNA and rpoß sequencing, as well as matrix-assisted laser desorption/ionization time-of-flight mass spectroscopy (MALDI-TOF MS), MicroScan Walkaway system and API20E biochemical identification. MALDI-TOF and rpoß correctly identified all Raoultella isolates, whereas 16S rRNA provided inconclusive results, and MicroScan and API20E failed to detect this genus. The analysis of the clinical characteristics of all Raoultella bacteraemia cases reported in the literature supports the role of Raoultella as an opportunistic pathogen that causes biliary tract infections in elderly patients who suffer from some kind of malignancy or have undergone an invasive procedure. Two salient conclusions are that Raoultella shows tropism for the biliary tract and so its identification could help clinicians to suspect underlying biliary tract disease when bacteraemia occurs. Concomitantly, as most phenotypic identification systems are not optimized for the identification of Raoultella, the use of MALDI-TOF or additional phenotypic tests is recommended for the reliable identification of this genus.


Sujet(s)
Bactériémie , Infections à Enterobacteriaceae/diagnostic , Infections à Enterobacteriaceae/microbiologie , Enterobacteriaceae/classification , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Enterobacteriaceae/génétique , Enterobacteriaceae/isolement et purification , Femelle , Gènes bactériens , Humains , Mâle , Adulte d'âge moyen , Réaction de polymérisation en chaîne , Analyse de séquence d'ADN , Spectrométrie de masse MALDI
2.
Rev Esp Cir Ortop Traumatol ; 56(1): 51-3, 2012.
Article de Espagnol | MEDLINE | ID: mdl-23177943

RÉSUMÉ

Staphylococcus epidermidis is the most prevalent species of coagulase-negative staphylococci (CNS). It accounts for over 65% of all staphylococci isolated from samples. In recent years the increasing relevance of CNS as pathogens is evident, mainly causing bacteraemia and prosthetic device infection. Linezolid, being an effective antibiotic against this pathogen, and due to its ease of use and oral posology, is becoming the treatment of choice in outpatients. However, the continued use of this drug is causing the development of resistant strains. We describe a prosthetic infection due to linezolid resistant S. epidermidis that appeared in a patient who had been previously treated with this drug for 16 days due to the isolation of Bacillus sp. This case was not related to a resistant strain hospital outbreak.


Sujet(s)
Acétamides/effets indésirables , Anti-infectieux/effets indésirables , Prothèse de genou/microbiologie , Oxazolidinones/effets indésirables , Infections à staphylocoques , Staphylococcus epidermidis/effets des médicaments et des substances chimiques , Sujet âgé de 80 ans ou plus , Résistance bactérienne aux médicaments/effets des médicaments et des substances chimiques , Femelle , Humains , Linézolide , Défaillance de prothèse/étiologie , Staphylococcus epidermidis/isolement et purification
3.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 56(1): 51-53, ene.-feb. 2012.
Article de Espagnol | IBECS | ID: ibc-96535

RÉSUMÉ

Staphylococcus epidermidis (S. epidermidis) es la especie más prevalente de los estafilococos coagulasa negativos (ECN). Supone más del 65% de todos los estafilococos aislados en las muestras. En los últimos años, el protagonismo como patógenos es manifiesto, fundamentalmente causando bacteriemia e infección de material protésico. El linezolid, por ser un antibiótico eficaz frente a este patógeno y ante su facilidad de uso por vía oral, está siendo de elección en el tratamiento de estas infecciones en el domicilio. Sin embargo, el uso continuado de este fármaco está causando la aparición de resistencias. Presentamos el caso clínico de una infección protésica por S. epidermidis resistente a linezolid en un paciente en el que previamente se había aislado Bacillus sp., motivo por el que había recibido este antibiótico durante 16 días. El caso no estuvo relacionado con un brote intrahospitalario de S. epidermidis resistente a linezolid (AU)


Staphylococcus epidermidis is the most prevalent species of coagulase-negative staphylococci (CNS). It accounts for over 65% of all staphylococci isolated from samples. In recent years the increasing relevance of CNS as pathogens is evident, mainly causing bacteraemia and prosthetic device infection. Linezolid, being an effective antibiotic against this pathogen, and due to its ease of use and oral posology, is becoming the treatment of choice in outpatients. However, the continued use of this drug is causing the development of resistant strains. We describe a prosthetic infection due to linezolid resistant S. epidermidis that appeared in a patient who had been previously treated with this drug for 16 days due to the isolation of Bacillus sp. This case was not related to a resistant strain hospital outbreak (AU)


Sujet(s)
Humains , Mâle , Prothèse de genou/tendances , Prothèse de genou , Infections/complications , Infections/diagnostic , Infections/traitement médicamenteux , Prévention des infections/méthodes , Staphylococcus epidermidis/isolement et purification , Staphylococcus epidermidis/pathogénicité , Bactériémie/complications , Bactériémie/traitement médicamenteux , Prothèse de genou/microbiologie , Staphylococcus epidermidis , Bactériémie/thérapie , Bacillus/pathogénicité
4.
Am J Med Genet A ; 146A(17): 2275-9, 2008 Sep 01.
Article de Anglais | MEDLINE | ID: mdl-18642369

RÉSUMÉ

A 5-year-old Mexican girl had a bilateral, systematized epidermal nevus of a non-epidermolytic, non-organoid type covering large parts of her body with the exception of the scalp. Clinically, this nevus was of a soft, velvety type showing affinity to the large body folds. Histopathological examination revealed orthohyperkeratosis and papillomatosis without granular degeneration and without any abnormality of adnexal structures. During infancy she developed seizures, and subsequently a delayed mental development was noted. Computer tomography of the brain revealed cortical and subcortical atrophy, a subdural hygroma in the left frontoparietotemporal region, and hypoplasia of corpus callosum. Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. The R248C mutation was also present in DNA extracted from blood leukocytes. Because FGFR3 is involved in the development of the central nervous system, the clinical and genetic findings of this case indicate a widespread mosaicism of the FGFR3 mutation. This unusual mosaic phenotype may represent a distinct entity within the group of epidermal nevus syndromes.


Sujet(s)
Malformations multiples/génétique , Cerveau/malformations , Mosaïcisme , Naevus pigmentaire/génétique , Récepteur de type 3 des facteurs de croissance fibroblastique/génétique , Tumeurs cutanées/génétique , Enfant d'âge préscolaire , Épiderme/malformations , Épilepsie/génétique , Femelle , Humains , Déficience intellectuelle/génétique , Mutation , Syndrome
5.
Clin Genet ; 66(1): 23-9, 2004 Jul.
Article de Anglais | MEDLINE | ID: mdl-15200504

RÉSUMÉ

Three sibs with congenital glaucoma, skeletal anomalies, and peculiar facial appearance were studied. At birth, enlarged eyes and corneae were present in the proposita and her two brothers due to congenital glaucoma secondary to iridogoniodysgenesis (IGD). The purpose of this article is to describe the second familial case with IGD and skeletal anomalies as the family previously described by García-Cruz et al. in 1990, corroborating this new distinct dysmorphic syndrome with probable autosomal recessive inheritance.


Sujet(s)
Os et tissu osseux/malformations , Faciès , Glaucome/diagnostic , Glaucome/génétique , Iris/malformations , Adulte , Os et tissu osseux/imagerie diagnostique , Malformations oculaires/diagnostic , Malformations oculaires/génétique , Femelle , Gènes récessifs , Humains , Mâle , Radiographie , Fratrie , Syndrome
6.
Clin Dysmorphol ; 13(2): 91-94, 2004 Apr.
Article de Anglais | MEDLINE | ID: mdl-15057124

RÉSUMÉ

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.


Sujet(s)
Malformations multiples/anatomopathologie , Os et tissu osseux/malformations , Face/malformations , Cardiopathies congénitales/anatomopathologie , Maladies musculaires/anatomopathologie , Malformations multiples/génétique , Taille , Os et tissu osseux/imagerie diagnostique , Enfant d'âge préscolaire , Femelle , Maladies génétiques liées au chromosome X , Humains , Radiographie
7.
Genet Couns ; 14(1): 39-43, 2003.
Article de Anglais | MEDLINE | ID: mdl-12725588

RÉSUMÉ

The triphalangeal thumb (TPT) is a rare malformation in which the thumb is presented as a long digit of three phalanges. We describe two brothers showing TPT and psychomotor retardation, especially in language. Difficulties in language development were also observed in children with TPT in another study. The coexistence of TPT and psychomotor retardation in those patients and in the two patients described here suggests that TPT and psychomotor retardation could be part of a syndromic association not described previously.


Sujet(s)
Troubles du développement du langage/génétique , Polydactylie/génétique , Troubles psychomoteurs/génétique , Pouce/malformations , Enfant d'âge préscolaire , Aberrations des chromosomes , Gènes dominants , Humains , Déficience intellectuelle/diagnostic , Déficience intellectuelle/génétique , Intelligence/génétique , Troubles du développement du langage/diagnostic , Mâle , Polydactylie/diagnostic , Troubles psychomoteurs/diagnostic , Syndrome
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