No abstract

The pandemic spread of multidrug-resistant (MDR) bacteria (i.e., methicillin-resistant Staphylococcus aureus (MRSA), extended-spectrum b-lactamase-producing Enterobacteriaceae (ESBLPE), vancomycin-resistant enterococci, carbapenemase-producing Enterobacteriaceae (CPE), multiresistant Pseudomonas aeruginosa and multiresistant Acinetobacter baumannii) pose a threat to healthcare Worldwide. We found limited data of MDR bacteria in pediatric patients hospitalized in Tunisian tertiary healthcare.The aim of the study is to evaluate the acquisition rate of MDR acquisition during hospitalization and to explore some of the associated risk factors for both carriage and acquisition at the pediatric department, Sahloul University Hospital. During September and October 2016, newly admitted patients were screened, at admission, during care and at discharge. Risk factors for colonization were explored by multivariate analysis. Of 112 newly admitted patients, 8.92% were colonized with at least one MDR. No risk factor was identified at admission. During hospitalization, five newly acquisition MDR (4.9%) were detected and eight (7.84%) at discharge. The specie most frequently detected on admission was Escherichia coli (50%), whereas, on discharge, Escherichia coli and K. pneumoniae were the species most frequently detected (52.7%). The pediatric intensive care unit (PICU) hospitalization, the length of hospital stay (more than 3days) and age under 2 years were identified as risk factor for acquisition of MDR during hospitalization. We identified several independent risk factors for contracting MDR bacteria during hospitalization in a tertiary pediatric department. The incidence of symptomatic MDR Infection among those colonized should be under close surveillance and long-term screening for those children is required. An institutional screening program for MDR especially in PICU might be discussed in regards to cost effectiveness.

Here we report that only the G2677A polymorphism was associated to NS susceptibility and steroid resistance. The TAT haplotype was associated with NS susceptibility especially at an early age and with steroid resistance.

This study expanded the number of PH3 patients from 63 to 66 cases. The p.Pro190Leu and the p.Gly287Val mutations found in this study can provide a first-line investigation in Tunisian PH1 patients.

BackgroundPrimary hyperoxaluria type I (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. Four mutations (G170R, 33_34insC, I244T and F152I) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1. We aimed to analyze the prevalence of these specific mutations causing PH1, and to provide an accurate tool for diagnosis of presymptomatic patients as well as for prenatal diagnosis in the affected families.MethodsPolymerase chain reaction/Restriction Fragment Length Polymorphism, were used to detect the four mutations in the AGXT gene in DNA samples from 57 patients belonging to 40 families.ResultsTwo mutations causing PH1 were detected in 24 patients (42.1%), with a predominance of the I244T mutation (68% of patients) and 33_34insC (in the remaining 32%). In 92% of cases, mutated alleles were in homozygous state.The presented clinical features were similar for the two mutations. The age of onset was heterogeneous with a higher frequency of the pediatric age. In 58.3% of cases, the presentation corresponded to advanced renal disease which occurred early (< 5 years) in the two mutations. In adolescents, only the I244T mutation was detected (41.1%). I244T and 33_34insC mutations were observed in adult patients, with 17.6% and 12.5% respectively.ConclusionLimited mutation analysis can provide a useful first line investigation for PH1. I244T and 33_34insC presented 28.2% of identified mutations causing disease in our cohort. This identification could provide an accurate tool for prenatal diagnosis in the affected families, for genetic counselling and for detection of presymptomatic individuals.