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1.
Prog Urol ; 29(16): 943-946, 2019 Dec.
Article in French | MEDLINE | ID: mdl-31757712

ABSTRACT

OBJECTIVE: The objective of this study was to assess the level of resistance of trimethoprim alone (TMP) with respect to E. coli strains isolated from the urines of women with simple acute cystitis in community. PATIENTS AND METHODS: Prospective study realized for 9 months in 2017-18. A total of 351 urine samples were analyzed. Culture has been made according to the usual techniques and antibiogram was carried out according to the recommendations of the CA-SFM. RESULTS: The rate of resistance to TMP was 16.5% (58/351). Only 11 strains of E. coli (3%) producing ESBL were found, 5 of which were sensitive to TMP. CONCLUSION: The resistance rate of E. coli to TMP remains below 20%, the threshold for choosing a probabilistic treatment of a non-serious infection. Considering the good tolerance of TMP and its weak effect on the microbiota during a short treatment, one can propose TMP alone in the probabilistic treatment of simple acute cystitis.


Subject(s)
Cystitis/drug therapy , Cystitis/microbiology , Escherichia coli Infections/drug therapy , Escherichia coli/drug effects , Trimethoprim Resistance , Trimethoprim/pharmacology , Trimethoprim/therapeutic use , Urinary Tract Infections/drug therapy , Urinary Tract Infections/microbiology , Acute Disease , Adolescent , Adult , Female , France , Humans , Prospective Studies
2.
Am J Med Genet A ; 152A(2): 464-71, 2010 Feb.
Article in English | MEDLINE | ID: mdl-20101685

ABSTRACT

The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.


Subject(s)
Chromosome Aberrations , Chromosome Disorders/genetics , Chromosomes, Human, Pair 20/genetics , Chromosomes, Human, Pair 20/ultrastructure , Ring Chromosomes , Cytogenetics , Female , Genotype , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Lymphocytes/metabolism , Models, Genetic , Phenotype , Pregnancy , Prenatal Diagnosis
3.
Am J Med Genet A ; 143A(7): 727-33, 2007 Apr 01.
Article in English | MEDLINE | ID: mdl-17330860

ABSTRACT

Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation.


Subject(s)
Chromosomes, Human, Pair 18 , Intellectual Disability/genetics , Trisomy , Adolescent , Child , Cytogenetic Analysis , Humans , Infant , Male
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