EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases.

SOX10 mutations mimic isolated hearing loss.

Ninety genes have been identified to date that are involved in non-syndromic hearing loss, and more than 300 different forms of syndromic hearing impairment have been described. Mutations in SOX10, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. In addition, rare mutations have been identified in patients with isolated signs of these diseases.

Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region.

BCL11A was the focus of recent studies on its inhibiting effect when bound onto the β-globin cluster in the mechanism of hemoglobin switching and HbF downregulation. We examined a cohort of 10 patients displaying different HbF levels and short deletions within the γβ-δ intergenic region to find a possible correlation with the BCL11A binding site located 5' to the δ-globin gene. Precise characterization of deletions was achieved using a custom DNA-array chip and breakpoint sequencing.

A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA).

The preparation of a prenatal diagnosis in a family of North-African origin in which a child received a bone marrow transplant for β-thalassemia major (β-TM), prompted us to make the molecular diagnosis in the parents and siblings. Molecular and phenotype assays were carried on blood samples from the parents and the proband's sister. The father, a 45-year-old man, was found to be heterozygous for a rare mutation in exon 2 [codon 46 (+A), HBB:c.

Pulse-field gel electrophoresis typing of methicillin-resistant Staphylococcus aureus strains susceptible to aminoglycosides isolated from 1993 to 2002.

Methicillin-resistant Staphylococcus aureus (MRSA) susceptible strains to aminoglycosides (AS-MRSA) have been increasingly isolated in the Albert Cheneiver Hospital during the past 10 years. The aim of this study was first, to analyse the genotypes and the profiles of resistance to antibiotics and second to compare the AS-MRSA with the MRSA resistant to gentamicin (GR-MRSA) and with MRSA resistant to kanamycin and tobramycin, but susceptible to gentamicin (GS-MRSA), previously studied in our laboratory. All the AS-MRSA consecutively isolated from clinical samples (carriage isolates excluded) from 01/01/1993 to 31/12/2002 (33 isolates) were typed by DNA macrorestriction.

A clinical trial of mupirocin in the eradication of methicillin-resistant Staphylococcus aureus nasal carriage in a digestive disease unit.

We assessed the incidence of nasal carriage of methicillin-resistant Staphylococcus aureus (MRSA) on admission, the rate of acquisition during the hospital stay and the relationship with subsequent infection in a digestive disease unit. The efficacy of a program of nasal carriage eradication with mupirocin was evaluated simultaneously. Over one year 484 patients were studied prospectively on admission for nasal and stool carriage of MRSA, then every week for nasal carriage.

Comparative pulsed-field gel electrophoresis typing of gentamicin-resistant and -susceptible methicillin-resistant Staphylococcus aureus strains isolated in France between 1991 and 1998. Changes in antibiotic susceptibility.

Using macrorestriction of genomic DNA and pulsed-field gel electrophoresis, we examined 504 non-redundant, infection-causing human isolates of methicillin-resistant Staphylococcus aureus susceptible (G(S): 238 isolates) or resistant to gentamicin (G(R): 266 isolates). The strains were isolated at Albert Chenevier Hospital (Créteil, France) between 1 January 1991 and 31 December 1998. Their susceptibility to erythromycin, lincomycin, tetracycline, rifampicin, fusidic acid and fosfomycin was also studied.

A 5-year epidemiological study of extended-spectrum beta-lactamase-producing Klebsiella pneumoniae isolates in a medium- and long-stay neurological unit.

Thirty-eight different strains of extended-spectrum beta-lactamase (ESBL)-producing Klebsiella pneumoniae (ESBL Kp), isolated from urine and pus samples of 38 patients hospitalized in a medium- and long-stay neurology department between 1 January 1992 and 31 December 1996, were analysed by antibiotic resistance phenotyping, DNA macrorestriction by pulsed-field electrophoresis and isoelectric focusing of beta-lactamases. An epidemiological survey was conducted to identify risk factors for infection by ESBL Kp in this setting. The 38 isolates were distributed into 13 antibiotypes, three of which predominated (13, six and six isolates).