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5. Ceftriaxone-resistant Salmonella enterica serotype Newport, France

Author

Egorova, Svetlana, Timinouni, Mohammed, Demartin, Marie, Granier, Sophie A., Whichard, Jean M., Sangal, Vartul, Fabre, Laetitia, Delaune, Aurelia, Pardos, Maria, Millemann, Yves, Espie, Emmanuelle, Achtman, Mark, Grimont, Patrick A.D., and Weill, Francois-Xavier

Subjects
Infection -- Health aspects, Salmonella -- Health aspects
Abstract

The multidrug-resistant (MDR) Salmonella enterica serotype Newport strain that produces CMY-2 [beta]-lactamase (Newport MDR-AmpC) was the source of sporadic cases and outbreaks in humans in France during 2000-2005. Because this [...]

Published
2008

7. Ceftazidime-resistant salmonella enterica, Morocco

Author

Bouchrif, Brahim, Hello, Simon Le, Pardos, Maria, Karraouan, Bouchra, Perrier-Gros-Claude, Jean-David, Ennaji, Moulay-Mustapha, Timinouni, Mohammed, and Weill, Francois-Xavier

Subjects
Salmonellosis -- Causes of, Salmonellosis -- Drug therapy, Salmonellosis -- Research, Drug resistance in microorganisms -- Research, Ceftazidime -- Health aspects, Ceftazidime -- Research
Abstract

To the Editor: Nontyphoidal salmonellosis (NTS) is a major food-borne illness worldwide. Extended-spectrum cephalosporins (ESCs) are currently preferred drugs for treatment of children with NTS. However, resistance to ESCs has [...]

Published
2009
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8. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Author

Bogliolo, Massimo, primary, Pujol, Roser, additional, Aza-Carmona, Miriam, additional, Muñoz-Subirana, Núria, additional, Rodriguez-Santiago, Benjamin, additional, Casado, José Antonio, additional, Rio, Paula, additional, Bauser, Christopher, additional, Reina-Castillón, Judith, additional, Lopez-Sanchez, Marcos, additional, Gonzalez-Quereda, Lidia, additional, Gallano, Pia, additional, Catalá, Albert, additional, Ruiz-Llobet, Ana, additional, Badell, Isabel, additional, Diaz-Heredia, Cristina, additional, Hladun, Raquel, additional, Senent, Leonort, additional, Argiles, Bienvenida, additional, Bergua Burgues, Juan Miguel, additional, Bañez, Fatima, additional, Arrizabalaga, Beatriz, additional, López Almaraz, Ricardo, additional, Lopez, Monica, additional, Figuera, Ángela, additional, Molinés, Antonio, additional, Pérez de Soto, Inmaculada, additional, Hernando, Inés, additional, Muñoz, Juan Antonio, additional, del Rosario Marin, Maria, additional, Balmaña, Judith, additional, Stjepanovic, Neda, additional, Carrasco, Estela, additional, Cuesta, Isabel, additional, Cosuelo, José Miguel, additional, Regueiro, Alexandra, additional, Moraleda Jimenez, José, additional, Galera-Miñarro, Ana Maria, additional, Rosiñol, Laura, additional, Carrió, Anna, additional, Beléndez-Bieler, Cristina, additional, Escudero Soto, Antonio, additional, Cela, Elena, additional, de la Mata, Gregorio, additional, Fernández-Delgado, Rafael, additional, Garcia-Pardos, Maria Carmen, additional, Sáez-Villaverde, Raquel, additional, Barragaño, Marta, additional, Portugal, Raquel, additional, Lendinez, Francisco, additional, Hernadez, Ines, additional, Vagace, José Manue, additional, Tapia, Maria, additional, Nieto, José, additional, Garcia, Marta, additional, Gonzalez, Macarena, additional, Vicho, Cristina, additional, Galvez, Eva, additional, Valiente, Alberto, additional, Antelo, Maria Luisa, additional, Ancliff, Phil, additional, Garcia, Francisco, additional, Dopazo, Joaquin, additional, Sevilla, Julian, additional, Paprotka, Tobias, additional, Pérez-Jurado, Luis Alberto, additional, Bueren, Juan, additional, and Surralles, Jordi, additional

Published
2019
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9. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Author

Bogliolo, Massimo, Pujol, Roser, Aza-Carmona, Miriam, Muñoz-Subirana, Núria, Rodriguez-Santiago, Benjamin, Casado, José Antonio, Rio, Paula, Bauser, Christopher, Reina-Castillón, Judith, Lopez-Sanchez, Marcos, Gonzalez-Quereda, Lidia, Gallano, Pia, Catalá, Albert, Ruiz-Llobet, Ana, Badell, Isabel, Diaz-Heredia, Cristina, Hladun, Raquel, Senent, Leonort, Argiles, Bienvenida, Bergua Burgues, Juan Miguel, Bañez, Fatima, Arrizabalaga, Beatriz, López Almaraz, Ricardo, Lopez, Monica, Figuera, Ángela, Molinés, Antonio, Pérez de Soto, Inmaculada, Hernando, Inés, Muñoz, Juan Antonio, del Rosario Marin, Maria, Balmaña, Judith, Stjepanovic, Neda, Carrasco, Estela, Cuesta, Isabel, Cosuelo, José Miguel, Regueiro, Alexandra, Moraleda Jimenez, José, Galera-Miñarro, Ana Maria, Rosiñol, Laura, Carrió, Anna, Beléndez-Bieler, Cristina, Escudero Soto, Antonio, Cela, Elena, de la Mata, Gregorio, Fernández-Delgado, Rafael, Garcia-Pardos, Maria Carmen, Sáez-Villaverde, Raquel, Barragaño, Marta, Portugal, Raquel, Lendinez, Francisco, Hernadez, Ines, Vagace, José Manue, Tapia, Maria, Nieto, José, Garcia, Marta, Gonzalez, Macarena, Vicho, Cristina, Galvez, Eva, Valiente, Alberto, Antelo, Maria Luisa, Ancliff, Phil, Garcia, Francisco, Dopazo, Joaquin, Sevilla, Julian, Paprotka, Tobias, Pérez-Jurado, Luis Alberto, Bueren, Juan, and Surralles, Jordi

Abstract

PurposePatients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since FA is caused by point mutations and large deletions in 22 genes following three heritability patterns. To optimise FA patients’ characterisation, we developed a simplified but effective methodology based on whole exome sequencing (WES) and functional studies.Methods68 patients with FA were analysed by commercial WES services. Copy number variations were evaluated by sequencing data analysis with RStudio. To test FANCAmissense variants, wt FANCA cDNA was cloned and variants were introduced by site-directed mutagenesis. Vectors were then tested for their ability to complement DNA repair defects of a FANCA-KO human cell line generated by TALEN technologies.ResultsWe identified 93.3% of mutated alleles including large deletions. We determined the pathogenicity of three FANCA missense variants and demonstrated that two FANCAvariants reported in mutations databases as ‘affecting functions’ are SNPs. Deep analysis of sequencing data revealed patients’ true mutations, highlighting the importance of functional analysis. In one patient, no pathogenic variant could be identified in any of the 22 known FA genes, and in seven patients, only one deleterious variant could be identified (three patients each with FANCA and FANCD2 and one patient with FANCE mutations)ConclusionWES and proper bioinformatics analysis are sufficient to effectively characterise patients with FA regardless of the rarity of their complementation group, type of mutations, mosaic condition and DNA source.

Published
2020
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10. Physical Feature Encoding and Word Recognition Abilities Are Altered in Children with Intractable Epilepsy: Preliminary Neuromagnetic Evidence

Author

Pardos, Maria, primary, Korostenskaja, Milena, additional, Xiang, Jing, additional, Fujiwara, Hisako, additional, Lee, Ki H., additional, Horn, Paul S., additional, Byars, Anna, additional, Vannest, Jennifer, additional, Wang, Yingying, additional, Hemasilpin, Nat, additional, and Rose, Douglas F., additional

Published
2015
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14. Ceftazidime-ResistantSalmonella enterica, Morocco

Author

Bouchrif, Brahim, primary, Le Hello, Simon, additional, Pardos, Maria, additional, Karraouan, Bouchra, additional, Perrier-Gros-Claude, Jean-David, additional, Ennaji, Moulay-Mustapha, additional, Timinouni, Mohammed, additional, and Weill, François-Xavier, additional

Published
2009
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15. Chromosomal Integration of the Extended-Spectrum β-Lactamase Gene bla CTX-M-15 in Salmonella enterica Serotype Concord Isolates from Internationally Adopted Children

Author

Fabre, Laëtitia, primary, Delauné, Aurélia, additional, Espié, Emmanuelle, additional, Nygard, Karin, additional, Pardos, Maria, additional, Polomack, Lucette, additional, Guesnier, Françoise, additional, Galimand, Marc, additional, Lassen, Jørgen, additional, and Weill, François-Xavier, additional

Published
2009
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17. Ceftriaxone-ResistantSalmonella entericaSerotype Newport, France

Author

Egorova, Svetlana, primary, Timinouni, Mohammed, additional, Demartin, Marie, additional, Granier, Sophie A., additional, Whichard, Jean M., additional, Sangal, Vartul, additional, Fabre, Laëtitia, additional, Delauné, Aurélia, additional, Pardos, Maria, additional, Millemann, Yves, additional, Espié, Emmanuelle, additional, Achtman, Mark, additional, Grimont, Patrick A.D., additional, and Weill, François-Xavier, additional

Published
2008
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18. Identification of Abnormal Neuromagnetic Signatures in the Motor Cortex of Adolescent Migraine.

Author

Xiaoshan Wang, Jing Xiang, Yingying Wang, Pardos, Maria, Lu Meng, Xiaolin Huo, Korostenskaja, Milena, Powers, Scott W., Kabbouche, Marielle A., and Hershey, Andrew D.

Subjects
MOTOR cortex, MAGNETOENCEPHALOGRAPHY, HEADACHE, MIGRAINE, FRONTAL lobe
Abstract

( Headache 2010;50:1005-1016) Objective.— To investigate the functional abnormalities of the motor cortices in children with migraine using magnetoencephalography (MEG) and a finger-tapping task. Background.— Cortical hyperexcitability has been reported in adults with migraine using MEG. Many children with migraine report difficulty with motor functioning. There is no report on motor-evoked magnetic activation in children with migraine using MEG and the latest signal processing methods. Methods.— Ten children with migraine (all female, 9 right-handed and 1 left-handed, aged 13-17 years) and 10 age- and gender-matched healthy children were studied with a 275-channel MEG system. After hearing a unilateral, randomly presented sound cue (500 Hz, 30 milliseconds square tone), each subject immediately performed a brisk index finger tapping with either the right or the left index finger. The auditory stimuli consisted of 200 trials of square tone, 100 trials per ear, randomly distributed. The latency and amplitude of neuromagnetic responses were analyzed with averaged waveforms. Neuromagnetic sources were estimated using synthetic aperture magnetometry (SAM). SAM images were normalized for each participant for group comparison. Results.— In comparison with healthy children, children with migraine had prolonged latency of motor-evoked magnetic response in the right hemispheres during left finger movement (62.33 ± 34.55 milliseconds vs 34.9 ± 17.29 milliseconds, P < .05). In addition, children with migraine had stronger activation in the motor cortex during right finger movement (8097.46 ± 5168.99 vs 4697.54 ± 3194.74, P < .05). Conclusions.— The results suggest that there are neurophysiological changes in the motor cortices of children with migraine that can be measured with neuromagnetic imaging techniques. The findings expand the ability to study the cerebral mechanisms of migraine using MEG and may facilitate the development of new therapeutic strategies in migraine treatment via alterations in cortical excitability. [ABSTRACT FROM AUTHOR]

Published
2010
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19. Chromosomal Integration of the Extended-Spectrum β-Lactamase Gene blaCTX-M-15in Salmonella entericaSerotype Concord Isolates from Internationally Adopted Children

Author

Fabre, Laëtitia, Delauné, Aurélia, Espié, Emmanuelle, Nygard, Karin, Pardos, Maria, Polomack, Lucette, Guesnier, Françoise, Galimand, Marc, Lassen, Jørgen, and Weill, François-Xavier

Abstract

ABSTRACTWe report the emergence of Salmonella entericaisolates of serotype Concord (and its monophasic variant 6,7:l,v:-) producing the extended-spectrum β-lactamases (ESBLs) SHV-12 and CTX-M-15 in France and Norway between 2001 and 2006 (43 in France and 26 in Norway). The majority of these isolates were from adopted children from Ethiopia, most of whom were healthy carriers. Several symptomatic secondary cases were found in the adoptive families and health care facilities in France. Serotype Concord isolates collected before 2003 produced SHV-12 encoded on a 340-kb conjugative plasmid of replicon IncI1. Isolates collected after 2003 produced CTX-M-15. We detected two conjugative plasmids carrying blaCTX-M-15. One plasmid, approximately 300 kb in size, was positive for the IncHI2 replicon and the plasmid-mediated quinolone resistance gene qnrA1. The other plasmid, from one of the earliest CTX-M-15-producing isolates collected, was a fusion plasmid with IncY and IncA/C2replicons and was 200 kb in size. However, we showed, using Southern hybridization of I-CeuI-digested chromosomal DNA and S1 nuclease analysis of plasmid DNA, that most isolates had a blaCTX-M-15gene located on chromosomal DNA. Analysis of the flanking regions of the chromosomally located blaCTX-M-15gene by cloning revealed an ISEcp1truncated by an intact IS26upstream from the blaCTX-M-15gene and a truncated orf477gene downstream from blaCTX-M-15. We found regions beyond the IS26and the orf477genes that were derived from IncA/C2plasmids, suggesting the chromosomal integration of part of the blaCTX-M-15-carrying IncY and IncA/C2fusion plasmid from early CTX-M-15-producing isolates.

Published
2009
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20. IncI1 Plasmid Carrying Extended-Spectrum-β-Lactamase Gene blaCTX-M-1in Salmonella entericaIsolates from Poultry and Humans in France, 2003 to 2008

Author

Cloeckaert, Axel, Praud, Karine, Lefevre, Martine, Doublet, Benoît, Pardos, Maria, Granier, Sophie A., Brisabois, Anne, and Weill, François-Xavier

Abstract

ABSTRACTWe report the dissemination of a conjugative IncI1 plasmid carrying blaCTX-M-1, conferring resistance to extended-spectrum cephalosporins, in Salmonella entericaisolates from poultry and humans in France from 2003 to 2008. By IncI1 plasmid subtyping, this plasmid was shown to be genetically related to that found in Escherichia coliisolates from healthy poultry in France.

Published
2010
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