Nocardiosis at a London teaching hospital: Be aware and beware of what is rare

Aims To review all laboratory-confirmed cases of nocardiosis at a tertiary referral hospital over an extended period (2000–2018; 216 months) with regard to microbiological and epidemiological characteristics, risk factors, clinical management, morbidity and mortality. Methods The medical records and microbiological data of all laboratory-confirmed cases of nocardiosis, identified by culture (with reference laboratory confirmation) or identified in a reference laboratory only, were included and analysed retrospectively. Results 18 cases of nocardiosis were identified; 72% (n = 13) were male; all were UK resident. Median age at presentation was 56 years (range 6–83 years). Most had underlying pathology or risk factors including cancer in 39% (n = 7) and immunosuppression in 33% (n = 6). Alcohol and acid fast bacilli (AAFB) microscopy performed in 8/18 cases was negative. Routine 48-hour bacterial culture of 18 isolates was positive in 15; 3 culture-negative specimens were subsequently confirmed positive in a reference laboratory. Four patterns of clinical presentation were observed: cerebral 39% (n = 7), disseminated 28% (n = 5), pulmonary 17% (n = 3), and isolated cutaneous/articular (both n = 1). In addition one case of bacteraemia was noted. Nocardia farcinica accounted for half (n = 9) of all nocardia species identified. 55% (n = 10) required surgical intervention. One co-trimoxazole resistant isolate was identified. Morbidity and mortality were high: 78% (n = 14) required critical care. More than half of patients (55%; n = 10) died from refractory infection, including all of those with disseminated disease (n = 5). Conclusions Nocardia spp should never be regarded as a contaminant or commensal organism in clinical specimens. Correlation of clinical and radiology findings plus risk factors are imperative for nocardiosis to be considered in the differential diagnosis in order to guide appropriate laboratory processing of specimens. Although rare, recognition of nocardiosis is important because of its high mortality. Routine 48-hour bacterial culture does not always identify Nocardia spp and isolates should also be sent to a reference laboratory

Matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF) score algorithm for identification of Gordonia species

Abstract Gordonia species differentiation is a tedious task. Herein, Gordonia identification was performed according to the standard Bruker score system and a recently proposed score for Gram positive rods identification (≥ 1.5 genus level and ≥ 1.7 species level). New scores significantly improved the identification at genus and species level

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients

Altres ajuts: European Regional Development Fund; Federación Española de Enfermedades Raras (FEDER); European Social Fund (ESF).Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. Results: We reviewed the clinical data collected through a specific questionnaire in a series of 145 Spanish patients with a phenotypic features compatible with PHTS and performed molecular characterization through several approaches including next generation sequencing and whole exome sequencing (WES). Macrocephaly, mucocutaneous lesions, gastrointestinal polyposis and obesity are prevalent phenotypic features in PHTS and help predict the presence of a PTEN germline variant in our population. We also find that PHTS patients are at risk to develop cancer in childhood or adolescence. Furthermore, we observe a high frequency of variants in exon 1 of PTEN, which are associated with renal cancer and overexpression of KLLN and PTEN. Moreover, WES revealed variants in genes like NEDD4 that merit further research. Conclusions: This study expands previously reported findings in other PHTS population studies and makes new contributions regarding clinical and molecular aspects of PHTS, which are useful for translation to the clinic and for new research lines