Results 71 to 80 of about 147,891 (229)

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Atrésie intestinale iléale: diagnostic anténatale et prise en charge

The Pan African Medical Journal, 2016
L'atrésie iléale est une malformation congénitale rare, elle constitue une faible part avec une incidence de 1 pour 5000 cas. Elle peut être suspectée et diagnostiqué échographiquement à la fin du deuxième et troisième trimestre.
Hanane Dhibou, Ahlam Bassir, Nadia Sami, Lahcen Boukhanni, Bouchra Fakhir, Hamid Asmouki, Abderraouf Soummani   +6 more
doaj   +1 more source

French family policy: long tradition and diversified measures [PDF]

In France, the intervention of the state in the private sphere has long been accepted as legitimate. The current French family policy is the result of a compromise between the objectives of raising fertility, providing income support to families and ...
Ariane Pailhé, Clémentine Rossier, Laurent Toulemon   +2 more
core   +1 more source

In vivo assessment of the mechanical properties of the child cortical bone using quantitative computed tomography [PDF]

, 2014
The mechanical properties of the rib cortical bone are extremely rare on children due to difficulties to obtain specimens to perform conventional tests. Some recent studies used cadaveric bones or bone tissues collected during surgery but are limited by ...
BERMOND, François, MITTON, David, PAYEN DE LA GARANDERIE, J., PIALAT, J.-B., PRACROS, J.-P., SANDOZ, Baptiste, SKALLI, Wafa, ZHU, Yumin   +7 more
core   +3 more sources

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Charlène Daval, Nicolas Meunier‐Beillard, Eléonore Viora‐Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Ange‐Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie‐Line Jacquemont, Agnès Guichet, Camille Saldana, Anne‐Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin‐Robinet, Laurence Faivre   +39 more
wiley   +1 more source

Clinical Presentation, Diagnostic Approaches, and Management of Tornwaldt Cysts: A Comprehensive Narrative Review

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective This narrative review aims to provide otolaryngologists with a comprehensive overview of the clinical presentation, diagnostic approaches, and management strategies for Tornwaldt cysts, synthesizing insights from the available literature.
Antonino Maniaci, Mario Lentini, Salvatore Cocuzza, Jerome Rene Lechien, Francois Simon, Alberto Maria Saibene, Nicolien Van Der Poel, Piero Pavone   +7 more
wiley   +1 more source

Spatial Theory, Temporality and Public Action [PDF]

, 2011
Innovation and information combined with ICTs constitute a new framework which questions the theories on the functioning of classic space and stresses the need to think of new frames.
Fache, Jacques
core   +1 more source

Congenital CMV Infection: Determination of Transplacental Passage of Aciclovir by Ex Vivo Placental Perfusion

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To quantify the transplacental transfer of aciclovir at an amount equivalent to 2 g of valaciclovir corresponding to the fractionated dosing regimen given four times daily used to reduce congenital cytomegalovirus (CMV) transmission and to treat the CMV‐infected fetus. Design Experimental ex vivo study.
Helyett Ollivier, Valentine Faure Bardon, Leo Froelicher Bournaud, Isidore Gaubert, Tiffany Guilleminot, Marianne Leruez‐Ville, Jean‐Marc Treluyer, Yves Ville, Gabrielle Lui, Julien Stirnemann   +9 more
wiley   +1 more source

Méningite après rachianesthésie

The Pan African Medical Journal, 2016
Les méningites sont des complications rares mais graves des anesthésies péridurales et des rachianesthésies. Les méningites bactériennes sont essentiellement dues à des cocci à Gram positif, ce qui sous-entend une contamination exogène pouvant être le ...
Issam Mouchrif, Adnane Berdaii, Ismail Labib, Moustapha Harrandou   +3 more
doaj   +1 more source

Adjunctive interferon-γ immunotherapy for the treatment of HIV-associated cryptococcal meningitis: a randomized controlled trial.

, 2012
BACKGROUND: Interferon-gamma (IFNγ) is of key importance in the immune response to Cryptococcus neoformans. Mortality related to cryptococcal meningitis remains high, and novel treatment strategies are needed.
Bekker, Linda-Gail, Bicanic, Tihana, Harrison, Thomas S, Jarvis, Joseph N, Meintjes, Graeme, Rebe, Kevin, Schutz, Charlotte, Williams, Anthony, Williams, Gertrude Ntombomzi, Wood, Robin   +9 more
core   +1 more source