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1.
Clin Microbiol Infect ; 22(3): 252-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26577139

RESUMO

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.


Assuntos
Bacteriemia , Infecções por Enterobacteriaceae/diagnóstico , Infecções por Enterobacteriaceae/microbiologia , Enterobacteriaceae/classificação , Adulto , Idoso , Idoso de 80 Anos ou mais , Enterobacteriaceae/genética , Enterobacteriaceae/isolamento & purificação , Feminino , Genes Bacterianos , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz
2.
Rev Esp Cir Ortop Traumatol ; 56(1): 51-3, 2012.
Artigo em Espanhol | MEDLINE | ID: mdl-23177943

RESUMO

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.


Assuntos
Acetamidas/efeitos adversos , Anti-Infecciosos/efeitos adversos , Prótese do Joelho/microbiologia , Oxazolidinonas/efeitos adversos , Infecções Estafilocócicas , Staphylococcus epidermidis/efeitos dos fármacos , Idoso de 80 Anos ou mais , Farmacorresistência Bacteriana/efeitos dos fármacos , Feminino , Humanos , Linezolida , Falha de Prótese/etiologia , Staphylococcus epidermidis/isolamento & purificação
3.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 56(1): 51-53, ene.-feb. 2012.
Artigo em Espanhol | IBECS | ID: ibc-96535

RESUMO

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)


Assuntos
Humanos , Masculino , Prótese do Joelho/tendências , Prótese do Joelho , Infecções/complicações , Infecções/diagnóstico , Infecções/tratamento farmacológico , Controle de Infecções/métodos , Staphylococcus epidermidis/isolamento & purificação , Staphylococcus epidermidis/patogenicidade , Bacteriemia/complicações , Bacteriemia/tratamento farmacológico , Prótese do Joelho/microbiologia , Staphylococcus epidermidis , Bacteriemia/terapia , Bacillus/patogenicidade
4.
Am J Med Genet A ; 146A(17): 2275-9, 2008 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-18642369

RESUMO

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.


Assuntos
Anormalidades Múltiplas/genética , Cérebro/anormalidades , Mosaicismo , Nevo Pigmentado/genética , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Neoplasias Cutâneas/genética , Pré-Escolar , Epiderme/anormalidades , Epilepsia/genética , Feminino , Humanos , Deficiência Intelectual/genética , Mutação , Síndrome
5.
Clin Genet ; 66(1): 23-9, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15200504

RESUMO

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.


Assuntos
Osso e Ossos/anormalidades , Facies , Glaucoma/diagnóstico , Glaucoma/genética , Iris/anormalidades , Adulto , Osso e Ossos/diagnóstico por imagem , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Feminino , Genes Recessivos , Humanos , Masculino , Radiografia , Irmãos , Síndrome
6.
Clin Dysmorphol ; 13(2): 91-94, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15057124

RESUMO

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.


Assuntos
Anormalidades Múltiplas/patologia , Osso e Ossos/anormalidades , Face/anormalidades , Cardiopatias Congênitas/patologia , Doenças Musculares/patologia , Anormalidades Múltiplas/genética , Estatura , Osso e Ossos/diagnóstico por imagem , Pré-Escolar , Feminino , Doenças Genéticas Ligadas ao Cromossomo X , Humanos , Radiografia
7.
Genet Couns ; 14(1): 39-43, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12725588

RESUMO

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.


Assuntos
Transtornos do Desenvolvimento da Linguagem/genética , Polidactilia/genética , Transtornos Psicomotores/genética , Polegar/anormalidades , Pré-Escolar , Aberrações Cromossômicas , Genes Dominantes , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Inteligência/genética , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Masculino , Polidactilia/diagnóstico , Transtornos Psicomotores/diagnóstico , Síndrome
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