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3. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Author

Heide, Solveig, Spentchian, Myrtille, Valence, Stéphanie, Buratti, Julien, Mach, Corinne, Lejeune, Elodie, Olin, Valérie, Massimello, Marta, Lehalle, Daphné, Mouthon, Linda, Whalen, Sandra, Faudet, Anne, Mignot, Cyril, Garel, Catherine, Blondiaux, Eleonore, Lefebvre, Mathilde, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Milh, Mathieu, Bretelle, Florence, Portes, Vincent des, Guibaud, Laurent, Putoux, Audrey, Tsatsaris, Vassili, Spodenkiewic, Marta, Layet, Valérie, Dard, Rodolphe, Mandelbrot, Laurent, Guet, Agnès, Moutton, Sébastien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Beneteau, Claire, Rocchisanni, Marie-Amélie, Benachi, Alexandra, Saada, Julien, Attié-Bitach, Tania, Guilbaud, Lucie, Maurice, Paul, Friszer, Stéphanie, Jouannic, Jean-Marie, de Villemeur, Thierry Billette, Moutard, Marie-Laure, Keren, Boris, and Héron, Delphine

Published
2020
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4. Cancer-associated Mutations in Congenital Pulmonary Malformations: A Prospective Cohort

Author

Garinet, Simon, primary, Rahshenas, Makan, additional, Galmiche-Rolland, Louise, additional, Abbo, Olivier, additional, Bonnard, Arnaud, additional, Hameury, Frédéric, additional, Khen-Dunlop, Naziha, additional, Khoshnood, Babak, additional, Blons, Hélène, additional, Delacourt, Christophe, additional, Boudjemaa, Sabah, additional, Choupeaux, Laure, additional, Collardeau-Frachon, Sophie, additional, Fouquet, Virginie, additional, Habonimana, Edouard, additional, Hervieux, Erik, additional, Lelong, Nathalie, additional, Levard, Guillaume, additional, Molina, Thierry Jo, additional, Picard, Cecile, additional, Piolat, Christophe, additional, Sfeir, Rony, additional, Biquard, Florence, additional, Bory, Jean-Paul, additional, Goffinet, François, additional, As, Valat-Rigot, additional, Winer, Norbert, additional, Mousty, Eve, additional, Muszynski, Charles, additional, Benachi, Alexandra, additional, Salomon, Laurent J., additional, Goua, Valérie, additional, Jouannic, Jean-Marie, additional, Bouar, Gwenaelle Le, additional, Massardier, Jérôme, additional, Rosenblatt, Jonathan, additional, Sartor, Agnès, additional, Thong-Vanh, Catherine, additional, Prieur, Fabienne, additional, Quibel, Thibaud, additional, Touboul, Claudine, additional, Gondry, Jean, additional, Sentilhes, Loic, additional, Bonfiglioli, Valérie, additional, Carbillon, Lionel, additional, Saliou, Anne-Helene, additional, Saada, Julien, additional, Letourneau, Alexandra, additional, Laurichesse, Helene, additional, Egron, Carole, additional, Deslandes, Loren, additional, Castaigne, Vanina, additional, Dazel-Salonne, Claire, additional, Stirnemann, Julien, additional, Roth, Philippe, additional, Bultez, Thierry, additional, Ville, Yves, additional, Tsatsaris, Vassilis, additional, Guilbaud, Lucie, additional, Darras, Anne-Marie, additional, Oury, Jean-Francois, additional, Fanget, Cecile, additional, Favre, Romain, additional, Paris, Anne, additional, Perrotin, Franck, additional, Banaszkiewicz, Nathalie, additional, Rakza, Thameur, additional, Morin, Mathieu, additional, Trastour, Cynthia, additional, Mottet, Nicolas, additional, Coatleven, Frederic, additional, Alanio, Elisabeth, additional, Morel, Olivier, additional, Perdriolle, Estelle, additional, Eszto-Cambon, Marie-Laure, additional, Berrazaga, Insaf, additional, Podevin, Guillaume, additional, Feghali, Hala, additional, Thumerelle, Caroline, additional, Mangione, Rafaelle, additional, Lebras, Marie-Noelle, additional, Ducoin, Héloise, additional, Romeo, Bernard, additional, Buisson, Philippe, additional, Cros, Pierrick, additional, Roditis, Léa, additional, Devries, Hiline, additional, Brouard, Jacques, additional, Petit, Thierry, additional, Petit, Isabelle, additional, Simo, Adam Kandem, additional, Pons, Maguelonne, additional, Jaby, Olivier, additional, Llerena, Catherine, additional, Sabatier, Edith, additional, Thouvenin, Guillaune, additional, Larroquet, Michele, additional, Irtan, Sabine, additional, Grapin, Christine, additional, Parico, Caroline, additional, Varlet, François, additional, Matis, Jacqueline, additional, Becmeur, François, additional, Gibertini, Isabelle, additional, Lardy, Hubert, additional, Denapolicocci, Stephan, additional, Deschildre, Antoine, additional, Breaud, Jean, additional, Lecompte, Jean-François, additional, Kamdem, Arnaud Fotso, additional, Elbaz, Frédéric, additional, Lavrand, Frédéric, additional, Pomedio, Mickael, additional, Lefebvre, Francis, additional, Lemelle, Jean Louis, additional, Gomola, Vladimir, additional, Vigier, Clementine, additional, and Monier, Isabelle, additional

Published
2023
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6. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Author

Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, Abiusi, Emanuela (ORCID:0000-0001-9028-012X), Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, and Abiusi, Emanuela (ORCID:0000-0001-9028-012X)

Abstract

Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families. Methods Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants. Results We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes (CNTNAP1, MAGEL2, ADGRG6, ADCY6, GLDN, LGI4, LMOD3, UNC50 and SCN1A). Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%). Conclusion New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes.

Published
2022

7. Auteurs et collaborateurs

Author

Goffinet François, Garabedian Charles, Le Ray Camille, Lansac Jacques, Anselem Olivia, Benachi Alexandra, Benoist Guillaume, Beucher Gael, Biquard Florence, Boidron-Balligand Isabelle, Bonnet Marie-Pierre, Carbonne Bruno, Deruelle Philippe, Dolley Patricia, Doret Muriel, Dreyfus Michel, Favrais Géraldine, Fischer Catherine, Gaucherand Pascal, Girault Aude, Hastoy Anita, Korb Diane, Madar Hugo, Marcellin Louis, Massoud Mona, Ouattara Adama, Ouédraogo Charlemagne, Oury Jean-François, Pizzoferrato Anne-Cécile, Renner Jean-Paul, Saada Julien, Saliba Elie, Schmitz Thomas, Sentilhes Loïc, Sibony Olivier, Tillot David, Vardon Delphine, Vayssière Christophe, and Verspyck Éric

Published
2022

9. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Author

Thomas, Sophie, Wright, Kevin J., Le Corre, Stéphanie, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph G., Valente, Enza Maria, Jackson, Peter K., Drummond, Iain A., Saunier, Sophie, and Attié-Bitach, Tania

Published
2014
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10. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Author

Laquerriere, Annie, primary, Jaber, Dana, additional, Abiusi, Emanuela, additional, Maluenda, Jérome, additional, Mejlachowicz, Dan, additional, Vivanti, Alexandre, additional, Dieterich, Klaus, additional, Stoeva, Radka, additional, Quevarec, Loic, additional, Nolent, Flora, additional, Biancalana, Valerie, additional, Latour, Philippe, additional, Sternberg, Damien, additional, Capri, Yline, additional, Verloes, Alain, additional, Bessieres, Bettina, additional, Loeuillet, Laurence, additional, Attie-Bitach, Tania, additional, Martinovic, Jelena, additional, Blesson, Sophie, additional, Petit, Florence, additional, Beneteau, Claire, additional, Whalen, Sandra, additional, Marguet, Florent, additional, Bouligand, Jerome, additional, Héron, Delphine, additional, Viot, Géraldine, additional, Amiel, Jeanne, additional, Amram, Daniel, additional, Bellesme, Céline, additional, Bucourt, Martine, additional, Faivre, Laurence, additional, Jouk, Pierre-Simon, additional, Khung, Suonavy, additional, Sigaudy, Sabine, additional, Delezoide, Anne-Lise, additional, Goldenberg, Alice, additional, Jacquemont, Marie-Line, additional, Lambert, Laetitia, additional, Layet, Valérie, additional, Lyonnet, Stanislas, additional, Munnich, Arnold, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Guimiot, Fabien, additional, Landrieu, Pierre, additional, Letard, Pascaline, additional, Pelluard, Fanny, additional, Perrin, Laurence, additional, Saint-Frison, Marie-Hélène, additional, Topaloglu, Haluk, additional, Trestard, Laetitia, additional, Vincent-Delorme, Catherine, additional, Amthor, Helge, additional, Barnerias, Christine, additional, Benachi, Alexandra, additional, Bieth, Eric, additional, Boucher, Elise, additional, Cormier-Daire, Valerie, additional, Delahaye-Duriez, Andrée, additional, Desguerre, Isabelle, additional, Eymard, Bruno, additional, Francannet, Christine, additional, Grotto, Sarah, additional, Lacombe, Didier, additional, Laffargue, Fanny, additional, Legendre, Marine, additional, Martin-Coignard, Dominique, additional, Mégarbané, André, additional, Mercier, Sandra, additional, Nizon, Mathilde, additional, Rigonnot, Luc, additional, Prieur, Fabienne, additional, Quélin, Chloé, additional, Ranjatoelina-Randrianaivo, Hanitra, additional, Resta, Nicoletta, additional, Toutain, Annick, additional, Verhelst, Helene, additional, Vincent, Marie, additional, Colin, Estelle, additional, Fallet-Bianco, Catherine, additional, Granier, Michèle, additional, Grigorescu, Romulus, additional, Saada, Julien, additional, Gonzales, Marie, additional, Guiochon-Mantel, Anne, additional, Bessereau, Jean-Louis, additional, Tawk, Marcel, additional, Gut, Ivo, additional, Gitiaux, Cyril, additional, and Melki, Judith, additional

Published
2021
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11. De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

Author

Jaber, Dana, primary, Gitiaux, Cyril, additional, Blesson, Sophie, additional, Marguet, Florent, additional, Buard, David, additional, Varela Salgado, Maritzaida, additional, Kaminska, Anna, additional, Saada, Julien, additional, Fallet-Bianco, Catherine, additional, Martinovic, Jelena, additional, Laquerriere, Annie, additional, and Melki, Judith, additional

Published
2020
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14. De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Author

Jaber, Dana, Gitiaux, Cyril, Blesson, Sophie, Marguet, Florent, Buard, David, Salgado, Maritzaida Varela, Kaminska, Anna, Saada, Julien, Fallet-Bianco, Catherine, Martinovic, Jelena, Laquerriere, Annie, and Melki, Judith

Abstract

Background: Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result from central nervous involvement. SCN1A encodes Nav1.1, a critical component of voltage-dependent sodium channels which underlie action potential generation and propagation. Variants of SCN1A are known to be responsible for Dravet syndrome, a severe early-onset epileptic encephalopathy. We report pathogenic heterozygous missense de novo variants in SCN1A in three unrelated individuals with AMC. Methods: Whole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missense variants in SCN1A (p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three patients. Sanger sequencing confirmed the variants and showed that they occurred de novo. Results: AMC was diagnosed from the second trimester of pregnancy in the three patients. One of them developed drug-resistant epileptic seizures from birth. We showed that SCN1A is expressed in both brain and spinal cord but not in skeletal muscle during human development. The lack of motor denervation as established by electromyographic studies or pathological examination of the spinal cord or skeletal muscle in the affected individuals suggests that AMC is caused by brain involvement. Conclusion: We show for the first time that SCN1A variants are responsible for early-onset motor defect leading to AMC indicating a critical role of SCN1A in prenatal motor development and broadening the phenotypic spectrum of variants in SCN1A. [ABSTRACT FROM AUTHOR]

Published
2021
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16. Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Author

Naud, Marie-Emmanuelle, Tosca, Lucie, Martinovic, Jelena, Saada, Julien, Métay, Corinne, Drévillon, Loïc, Benoit, Virginie, Brisset, Sophie, and Tachdjian, Gérard

Subjects
Article Subject
Abstract

Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

Published
2017
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18. De novo mutations of SCN1Aare responsible for arthrogryposis broadening the SCN1A-related phenotypes

Author

Jaber, Dana, Gitiaux, Cyril, Blesson, Sophie, Marguet, Florent, Buard, David, Varela Salgado, Maritzaida, Kaminska, Anna, Saada, Julien, Fallet-Bianco, Catherine, Martinovic, Jelena, Laquerriere, Annie, and Melki, Judith

Abstract

BackgroundArthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result from central nervous involvement. SCN1Aencodes Nav1.1, a critical component of voltage-dependent sodium channels which underlie action potential generation and propagation. Variants of SCN1Aare known to be responsible for Dravet syndrome, a severe early-onset epileptic encephalopathy. We report pathogenic heterozygous missense de novo variants in SCN1Ain three unrelated individuals with AMC.MethodsWhole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missense variants in SCN1A(p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three patients. Sanger sequencing confirmed the variants and showed that they occurred de novo.ResultsAMC was diagnosed from the second trimester of pregnancy in the three patients. One of them developed drug-resistant epileptic seizures from birth. We showed that SCN1Ais expressed in both brain and spinal cord but not in skeletal muscle during human development. The lack of motor denervation as established by electromyographic studies or pathological examination of the spinal cord or skeletal muscle in the affected individuals suggests that AMC is caused by brain involvement.ConclusionWe show for the first time that SCN1Avariants are responsible for early-onset motor defect leading to AMC indicating a critical role of SCN1Ain prenatal motor development and broadening the phenotypic spectrum of variants in SCN1A.

Published
2021
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19. Reproducibility of fetal lung-to-head ratio in left diaphragmatic hernia across the North American Fetal Therapy Network (NAFTNet).

Author

Abbasi, Nimrah, Ryan, Greg, Johnson, Anthony, Cortes, Magda Sanz, Sangi‐Haghpeykar, Haleh, Ye, Xiang Y., Shah, Prakesh S., Benachi, Alexandra, Saada, Julien, Ruano, Rodrigo, Sangi-Haghpeykar, Haleh, and NAFTNet*

Abstract

Objective: To determine the antenatal sonographic lung area measurement method in left congenital diaphragmatic hernia (CDH) with the highest interrater agreement among North American Fetal Therapy Network (NAFTNet) centers within and outside the fetoscopic tracheal occlusion (FETO) consortium and in comparison with a European "expert" reviewer (ER).Methods: Nineteen members from nine FETO consortium centers and 29 reviewers from 17 non-FETO centers reviewed ultrasound clips of the chest from 13 fetuses with isolated left CDH and were asked to select a static plane for lung area measurement using anteroposterior (AP), longest, and trace methods. Interrater agreement in lung area measurements was determined using intraclass correlation coefficient (ICC). Bland-Altman analysis was used to evaluate mean difference (bias) between NAFTNet reviewers and ER.Results: Among FETO centers, agreement was highest using trace (ICC 0.94; 95% CI, 0.83-0.98), followed by longest (ICC 0.89; 95% CI, 0.75-0.97) and lowest for A-P (ICC 0.83; 95% CI, 0.67-0.94). Similar trends were noted in non-FETO centers. When compared with ER, bias was lowest for trace: 14 ± 38 mm2 and 19 ± 36 mm2 for FETO and non-FETO centers, respectively.Conclusion: The trace method demonstrated the highest interrater agreement and lowest bias for lung area estimation in left CDH across NAFTNet. [ABSTRACT FROM AUTHOR]

Published
2019
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20. Sonographic Evaluation of Fetal Conus Medullaris and Filum Terminale

Author

Mottet, Nicolas, Saada, Julien, Jani, Jacques, Martin, Alain, Riethmuller, Didier, Zerah, Michel, Benachi, Alexandra, Mottet, Nicolas, Saada, Julien, Jani, Jacques, Martin, Alain, Riethmuller, Didier, Zerah, Michel, and Benachi, Alexandra

Abstract

Background: Sonographic evaluation of the fetal conus medullaris (CM) level is not reproducible. The objectives of this study were to determine the normal position of the fetal CM during pregnancy as well as the normal intradural filum terminale (FT) length and to evaluate their use in detecting tethered cord. Methods: This is a prospective evaluation of normal singleton pregnancies examined by sonography from 17 weeks of gestation to term. Each sonographer had to identify the top of the first sacral vertebra (S1) to measure the distance between it and the conus extremity (CM-S1 distance). The intradural FT distance was measured with 5- to 8-MHz probes. Results: 194 consecutive pregnant women were included. The CM and intradural FT were demonstrated clearly in 164 (84%) cases. The mean CM-S1 distance was 20.6 mm (range 0.5-42). The mean intradural FT distance was 27.9 mm (range 6.6-49.3). Linear regression analysis showed a significant association between both those distances and gestational age (p < 0.05). In cases of tethered cord, the mean CM-S1 distance and the mean intradural FT distance were both below the 5th percentile. Conclusion: Prenatal evaluation of the CM and the intradural FT is feasible and reproducible and seems useful in detecting tethered cord., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016

21. Cover Image, Volume 36, Issue 10

Author

Cordier, Anne-Gael, primary, Fuchs, Florent, additional, Tassin, Mikael, additional, Saada, Julien, additional, Letourneau, Alexandra, additional, Brisset, Sophie, additional, Mandelbrot, Laurent, additional, Bidat, Laurent, additional, and Benachi, Alexandra, additional

Published
2016
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24. Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion

Author

Cordier, Anne Gaël, Benachi, Alexandra, Jani, Jacques, Cannie, Mieke, Rodó, Carlota, Fabietti, Isabella, Persico, Nicola, Saada, Julien, Carreras, Elena, Senat, Marie Victoire, Cordier, Anne Gaël, Benachi, Alexandra, Jani, Jacques, Cannie, Mieke, Rodó, Carlota, Fabietti, Isabella, Persico, Nicola, Saada, Julien, Carreras, Elena, and Senat, Marie Victoire

Abstract

Objective To investigate the value of fetal stomach position in predicting postnatal outcome in left-sided congenital diaphragmatic hernia (CDH) with and without fetoscopic endoluminal tracheal occlusion (FETO). Methods This was a retrospective review of CDH cases that were expectantly managed or treated with FETO, assessed from May 2008 to October 2013, in which we graded, on a scale of 1-4, stomach position on the four-chamber view of the heart with respect to thoracic structures. Logistic regression analysis was used to investigate the effect of management center (Paris, Brussels, Barcelona, Milan), stomach grading, observed-to-expected lung area-to-head circumference ratio (O/E-LHR), gestational age at delivery, birth weight in expectantly managed CDH, gestational ages at FETO and at removal and period of tracheal occlusion, on postnatal survival in CDH cases treated with FETO. Results We identified 67 expectantly managed CDH cases and 47 CDH cases that were treated with FETO. In expectantly managed CDH, stomach position and O/E-LHR predicted postnatal survival independently. In CDH treated with FETO, stomach position and gestational age at delivery predicted postnatal survival independently. Conclusion In left-sided CDH with or without FETO, stomach position is predictive of postnatal survival., SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

Published
2015

25. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Author

Lévy, Jonathan, Jouannic, Jean-Marie, Saada, Julien, Dhombres, Ferdinand, Siffroi, Jean-Pierre, and Portnoï, Marie-France

Subjects
Article Subject
Abstract

Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

Published
2013
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26. Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA).

Author

Russo, Francesca Maria, Cordier, Anne‐Gael, De Catte, Luc, Saada, Julien, Benachi, Alexandra, Deprest, Jan, on behalf of the Workstream Prenatal Management, ERNICA European reference network, Cordier, Anne-Gael, and Workstream Prenatal Management, ERNICA European reference network

Subjects
DIAPHRAGMATIC hernia, FETAL ultrasonic imaging, GENETIC disorders, LIVER, LUNGS, MAGNETIC resonance imaging, EVALUATION of medical care, PREGNANCY, REFERENCE values, STOMACH, GENETIC testing, SYMPTOMS
Abstract

Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. Antenatal ultrasound screening identifies more than 70% of cases, providing the opportunity for in utero referral to a tertiary care center for expert assessment and perinatal management. Additional genetic and morphologic assessment may be used to rule out associated anomalies. In isolated cases, the outcome may be predicted prenatally by medical imaging. The combination of lung size and liver herniation is a widely accepted method to stratify fetuses into groups with an increasing degree of pulmonary hypoplasia and corresponding mortality rates. Ultrasound measurement of the observed to expected lung-to-head ratio (o/e LHR) is most widely used. The o/e LHR is an independent predictor of survival and short-term morbidity. Finally, evaluation of stomach position has recently been introduced as an indirect method to estimate severity of the disease in left-sided defects, as it has been shown to correlate with the proportion of intrathoracic liver. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated CDH and individualized prediction of neonatal outcome. [ABSTRACT FROM AUTHOR]

Published
2018
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27. Hernie congénitale du diaphragme: Prise en charge anténatale

Author

Benachi, Alexandra, Saada, Julien, Martinovic, Jelena, De Lagausie, Pascal, Storme, Laurent, Jani, Jacques, Benachi, Alexandra, Saada, Julien, Martinovic, Jelena, De Lagausie, Pascal, Storme, Laurent, and Jani, Jacques

Abstract

The prenatal evaluation of the postnatal prognosis of fetuses displaying congenital diaphragmatic hernia (CDH) has improved over the past five years. Although the accuracy of these outcome predictions remains a matter of debate, it seems important that all teams in charge of those fetuses use the same prognostic factors in order to be able to improve and compare their practice. Prediction will be based on Lung over Head Ratio (LHR) between 22 and 28 weeks or the LHR observed/expected whatever the gestational age, (the measurement of which relies on very strict criteria), the position of the liver and lung volumes measured by MRI. These factors allow the identification of a group of fetuses likely to have a poor outcome. In the group with LHR less than 1 or LHR o/e less than 25% and where the liver is in the thorax, survival is less than 20%. In utero treatment could be offered to these fetuses. A balloon can be placed in the trachea, under the vocal cords, by foetoscopy between 28 and 30 weeks of pregnancy. The balloon is retrieved at 34 weeks. The preliminary results show that survival in this group increases from 20% to up to 50%. The morbidity does not seem to be increased but is currently under evaluation. © 2011 SPLF. Published by Elsevier Masson SAS. All rights reserved., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2011

28. A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Author

Thomas, Sophie, primary, Wright, Kevin J., additional, Corre, Stéphanie Le, additional, Micalizzi, Alessia, additional, Romani, Marta, additional, Abhyankar, Avinash, additional, Saada, Julien, additional, Perrault, Isabelle, additional, Amiel, Jeanne, additional, Litzler, Julie, additional, Filhol, Emilie, additional, Elkhartoufi, Nadia, additional, Kwong, Mandy, additional, Casanova, Jean-Laurent, additional, Boddaert, Nathalie, additional, Baehr, Wolfgang, additional, Lyonnet, Stanislas, additional, Munnich, Arnold, additional, Burglen, Lydie, additional, Chassaing, Nicolas, additional, Encha-Ravazi, Ferechté, additional, Vekemans, Michel, additional, Gleeson, Joseph G., additional, Valente, Enza Maria, additional, Jackson, Peter K., additional, Drummond, Iain A., additional, Saunier, Sophie, additional, and Attié-Bitach, Tania, additional

Published
2013
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30. Combining keratinocyte growth factor transfection into the airways and tracheal occlusion in a fetal sheep model of congenital diaphragmatic hernia

Author

Saada, Julien, primary, Oudrhiri, Noufissa, additional, Bonnard, Arnaud, additional, de Lagausie, Pascal, additional, Aissaoui, Abderrahim, additional, Hauchecorne, Michelle, additional, Oury, Jean-François, additional, Aigrain, Yves, additional, Peuchmaur, Michel, additional, Lehn, Jean-Marie, additional, Lehn, Pierre, additional, and Luton, Dominique, additional

Published
2010
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36. Gastroschisis

Author

Saada, Julien, primary, Oury, Jean-Fran??ois, additional, VUILLARD, Edith, additional, Guibourdenche, Jean, additional, Lagausie, Pascal De, additional, Sterkers, Ghislaine, additional, Bruner, Joseph P, additional, and Luton, Dominique, additional

Published
2005
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38. Endothelin receptor expression in human lungs of newborns with congenital diaphragmatic hernia

Author

de Lagausie, Pascal, primary, de Buys‐Roessingh, Anthony, additional, Ferkdadji, Latifa, additional, Saada, Julien, additional, Aisenfisz, Sophie, additional, Martinez‐Vinson, Christine, additional, Fund, Xavier, additional, Cayuela, Jean Michel, additional, Peuchmaur, Michel, additional, Mercier, Jean Christophe, additional, and Berrebi, Dominique, additional

Published
2004
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40. The Privatization of the Border: New Security Markets.

Author

Saada, Julien

Abstract

In 2003, the new cabinet-level Department of Homeland Security, opened for business to private firm. Since then, a new market intended to give security to the border grow up every year. Many big defences companies convert to this new industry through seve ..PAT.-Unpublished Manuscript [ABSTRACT FROM AUTHOR]

Published
2010

41. A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.

Author

Thomas, Sophie, Wright, Kevin J., Corre, Stéphanie Le, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean‐Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, and Chassaing, Nicolas

Abstract

ABSTRACT Joubert syndrome ( JS) is characterized by a distinctive cerebellar structural defect, namely the « molar tooth sign ». JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6 D, encoding a prenyl-binding protein. We found that pde6d depletion in zebrafish leads to renal and retinal developmental anomalies and wild-type but not mutant PDE6 D is able to rescue this phenotype. Proteomic analysis identified INPP5 E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl-dependent cargo of PDE6 D. Mutant PDE6 D shows reduced binding to INPP5 E, which fails to localize to primary cilia in patient fibroblasts and tissues. Furthermore, mutant PDE6 D is unable to bind to GTP-bound ARL3, which acts as a cargo-release factor for PDE6 D-bound INPP5 E. Altogether, these results indicate that PDE6 D is required for INPP5 E ciliary targeting and suggest a broader role for PDE6 D in targeting other prenylated proteins to the cilia. This study identifies PDE6 D as a novel JS disease gene and provides the first evidence of prenyl-binding-dependent trafficking in ciliopathies. [ABSTRACT FROM AUTHOR]

Published
2014
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42. Prenatal cortical hyperostosis with COL1A1 gene mutation

Author

KamounGoldrat, Agnès, Martinovic, Jelena, Saada, Julien, SonigoCohen, Pascale, Razavi, Ferechte, Munnich, Arnold, and Le Merrer, Martine

Abstract

Infantile cortical hyperostosis Caffey disease is benign and selflimiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21yearold woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical hyperostosis in affected bones. A missense mutation 3040C → T in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C → T mutation can also be found in lethal prenatal cortical hyperostosis. © 2008 WileyLiss, Inc.

Published
2008
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43. Liste des collaborateurs

Author

Alvarez, Luis, Amiel, Jeanne, Aubry, Marie-Cécile, Benachi, Alexandra, Benoist, Guillaume, Bernardes, Lisandra, Bonnefont, Jean-Paul, Bouhanna, Philippe, Carricaburu, Elizabeth, Gihad, Chalouhi, Châtel, Paul, Cordier, Anne-Gael, Costa, Jean-Marc, Couloignier, Vincent, Delahaye, Sophie, Ducarme, Guillaume, Dumez, Yves, Essaoui, Mohamed, Fermont, Laurent, Garabedian, Charles, Garel, Catherine, Guibaud, Laurent, Heidet, Laurence, Houfflin-Debarge, Jouannic, Jean-Marie, Lefèvre, Yan, Lepinard, Catherine, Leruez-Ville, Marianne, Léticée, Nadia, Luton, Dominique, Mandelbrot, Laurent, Monnot, Sophie, Moutard, Marie-Laure, Perrotin, Franck, Picone, Olivier, Rosenblatt, Jonathan, Roume, Joëlle, Rousseau, Véronique, Saada, Julien, Salomon, Laurent, Senat, Marie-Victoire, Soubieux, Marie-Josée, Steffann, Julie, Stirnemann, Julien, Touboul, Cyrille, Ville, Yves, Vuillard, Édith, and Zerah, Michel

Published
2013
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44. [Antenatal care for fetuses with congenital diaphragmatic hernia].

Author

Mégier C, Letourneau A, Bejjani L, Boumerzoug MM, Suffee C, Huynh V, Saada J, Dumery G, and Benachi A

Subjects
Humans, Pregnancy, Female, Infant, Newborn, Prenatal Care methods, Prognosis, Prenatal Diagnosis methods, Balloon Occlusion methods, Magnetic Resonance Imaging, Hernias, Diaphragmatic, Congenital therapy, Hernias, Diaphragmatic, Congenital diagnostic imaging, Fetoscopy methods, Ultrasonography, Prenatal
Abstract

Congenital diaphragmatic hernia (CDH) can be diagnosed prenatally and its severity assessed by fetal imaging. The prognosis of a fetus with CDH is based on whether or not the hernia is isolated, the measurement of lung volume on ultrasound and MRI, and the position of the liver. The birth of a child with CDH should take place in a center adapted to the care of such children, and in accordance with the recommendations defined by the French National Diagnosis and Care Protocol. It has recently been demonstrated that for moderate and severe forms of CDH, tracheal occlusion using a balloon placed in utero by fetoscopy (FETO) increases survival until discharge from the neonatal unit, but at the cost of an increased risk of prematurity. At the same time, advances in neonatal resuscitation and the standardization of follow-up of these children within the framework of the "Centre de référence maladies rares: hernie de coupole diaphragmatique" have improved the prognosis of these children and young adults., (Copyright © 2024. Published by Elsevier Masson SAS.)

Published
2024
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45. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Author

Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, and Melki J

Subjects
Genomics, Humans, Pedigree, Phenotype, Proteins genetics, Transcription Factors genetics, Exome Sequencing, Arthrogryposis diagnosis, Arthrogryposis genetics, Arthrogryposis pathology
Abstract

Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families., Methods: Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants., Results: We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes ( CNTNAP1 , MAGEL2 , ADGRG6 , ADCY6 , GLDN , LGI4 , LMOD3 , UNC50 and SCN1A ). Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%)., Conclusion: New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2022
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46. Endothelin receptor expression in human lungs of newborns with congenital diaphragmatic hernia.

Author

de Lagausie P, de Buys-Roessingh A, Ferkdadji L, Saada J, Aisenfisz S, Martinez-Vinson C, Fund X, Cayuela JM, Peuchmaur M, Mercier JC, and Berrebi D

Subjects
Body Weight, Female, Gene Expression, Hernia, Diaphragmatic complications, Hernia, Diaphragmatic pathology, Hernias, Diaphragmatic, Congenital, Humans, Infant, Newborn, Lung pathology, Male, Microdissection methods, Organ Size, Persistent Fetal Circulation Syndrome etiology, Persistent Fetal Circulation Syndrome metabolism, Persistent Fetal Circulation Syndrome pathology, Pulmonary Artery metabolism, RNA, Messenger genetics, Receptor, Endothelin A genetics, Receptor, Endothelin A metabolism, Receptor, Endothelin B genetics, Receptor, Endothelin B metabolism, Retrospective Studies, Reverse Transcriptase Polymerase Chain Reaction, Hernia, Diaphragmatic metabolism, Lung metabolism, Receptors, Endothelin metabolism
Abstract

Congenital diaphragmatic hernia (CDH) is a major cause of refractory respiratory failure in the neonatal period and is characterized by persistent pulmonary hypertension of the newborn (PPHN) and pulmonary hypoplasia. Endothelin-1 (ET-1) dysregulation may play a significant role in the pathophysiology of PPHN and ET-1 acts through binding to type A (ETA) and type B (ETB) receptors. Therefore, ETA and ETB receptor protein expression was studied using immunohistochemistry in 10 lung specimens obtained from newborns with CDH, and 4 normal lung specimens, in order to explore whether dysregulation of ETA and ETB expression contributes to PPHN. ETA and ETB mRNAs were then quantified using real-time RT-PCR in laser-microdissected pulmonary resistive arteries. In the lungs of newborns with CDH, immunohistochemistry of both ETA and ETB receptors demonstrated over-expression in the thickened media of pulmonary arteries. Using laser microdissection and real-time RT-PCR, higher levels of ETA and ETB mRNA were found in CDH pulmonary arteries than in controls: this increase was more pronounced for ETA mRNA. This study provides the first demonstration of ET-1 receptor dysregulation in association with structural alteration of pulmonary arteries in newborns with CDH and PPHN. This dysregulation preferentially affects the ETA receptor. These results suggest that dysregulation of ET-1 receptors may contribute to PPHN associated with CDH.

Published
2005
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