Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
ISSN: 1098-3600

hal-01134364
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134364
DOI : 10.1038/gim.2015.29
PUBMED : 25790162

Éditeur(s) : HAL CCSD Lippincott, Williams & Wilkins
Résumé : International audience
BACKGROUND:Fever in infants younger than 3 months is generally a cause for concern because of the risk for a serious bacterial infection. The aim of this study was to describe clinical and biological features of Chikungunya infection in infants < 3 months of age hospitalized in Cayenne Hospital during the 2014-2015 outbreak.METHODS:We performed a preliminary retrospective study followed by a prospective study from March 2014 to February 2015. All infants younger than 3 months presenting with fever and hospitalized in Cayenne Hospital were included. The main diagnostic criteria were fever and positive Chikungunya PCR.RESULTS:One hundred and twenty infants were hospitalized with fever. The mean age was 46 days (SD± 22 days). The mean hospitalization duration was 7.4 days (SD± 6.1 days). Chikungunya infection was diagnosed in 26 children. The most important clinical findings were high (80.8% [77.5-84]) and prolonged fever (76.9%, [73.4-80.4]), irritability (96.2% [94.5-97.7]) and skin rash. (69.2%, [65.4-73]). Half of the infants presented edema of the extremities (hands and feet principally). However, in 15 %, Chikungunya infection was associated with a serious bacterial infection. Infants who presented with irritability, high fever and elevated PCT were at high risk for Chikungunya: OR 39, [9.2-243] (p < 0.001), with a specificity of 96.7 % and a negative predictive value of 89.4%. The area of the ROC curve was 0.96 CONCLUSIONS:: Our results confirm that Chikunguyna infection is a cause of high fever in infants younger than 3 months. Our data should be confirmed by larger studies.
ISSN: 0891-3668

inserm-01476019
http://www.hal.inserm.fr/inserm-01476019
http://www.hal.inserm.fr/inserm-01476019/document
http://www.hal.inserm.fr/inserm-01476019/file/2017%2C%20Elenga%20-%20Chikungunya%20Infection%20in%20hospitalized%20febrile%20infants.pdf
DOI : 10.1097/INF.0000000000001541

Éditeur(s) : HAL CCSD European Centre for Disease Prevention and Control
Résumé : International audience
Following of the emergence of Zika virus in Brazil in 2015, an epidemiological surveillance system was quickly implemented in the French overseas Territories of America (FTA) according to previous experience with dengue and chikungunya and has detected first cases of Zika. General practitioners and medical microbiologists were invited to report all clinically suspectedcases of Zika, laboratory investigations were systematically conducted (RT-PCR). On 18 December, the first autochthonous case of Zika virus infection was confirmed by RT-PCR on French Guiana and Martinique, indicating introduction of Zika virus inFTA. The viral circulation of Zika virus was then also confirmed on Guadeloupe and Saint-Martin. We report here early findings on 203 confirmed cases of Zika virus infection identified by RT-PCR or seroneutralisation on Martinique Island between 24 November 2015 and 20 January 2016. All cases were investigated. Common clinical signs were observed (maculopapularrash, arthralgia, fever, myalgia and conjunctival hyperaemia) among these patients, but the rash, the foundation of our case definition, may be absent in a significant proportion of patients (16%). These results are important for the implementation of a suspected case definition, the main tool for epidemiological surveillance, in territories that may be affected by ZIKV emergence, including Europe.
ISSN: 1025-496X

Droits : info:eu-repo/semantics/OpenAccess
inserm-01415215
http://www.hal.inserm.fr/inserm-01415215
http://www.hal.inserm.fr/inserm-01415215/document
http://www.hal.inserm.fr/inserm-01415215/file/2016%2C%20Daudens-Vaysse%20-%20Zika%20emergence%20in%20the%20French%20Territories%20of%20America%20and%20description%20of%20first%20confirmed%20cases%20of%20Zika%20virus%20infection%20on%20Martinique%20.pdf
DOI : 10.2807/1560-7917.ES.2016.21.28.30285