Results 41 to 50 of about 10,063 (203)

Anesthetic management for emergency cesarean delivery in parturient with achondroplasia – A case report and review of the literature

Journal of Obstetric Anaesthesia and Critical Care, 2020
Achondroplasia is a genetic disorder where there is underdevelopment and shortening of the long bones formed by endochondral ossification without abnormalities of cartilage formation.
Youssef Motiaa, Wafae El Otmani, Zakaria Ouassou, Khalid Azizi   +3 more
doaj   +1 more source

Anesthesia Management in Achondroplasia: A Case Report

Archives of Anesthesia and Critical Care, 2021
Achondroplasia is the result of a mutation in the gene encoding the type 3 receptor for a fibroblast growth factor. This abnormality results in malformation endochondral ossification.
Houman Teymourian, Hamidreza Azizi Faresani, Faranak Behnaz, Arash Tafrishinejad, Hamideh Ariannia, Sogol Asgari   +5 more
doaj   +1 more source

Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation. [PDF]

PLoS ONE, 2012
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. The G380R mutation accounts for 98% of the achondroplasia cases, and thus has been studied extensively.
Lijuan He, Christopher Serrano, Nitish Niphadkar, Nadia Shobnam, Kalina Hristova   +4 more
doaj   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Fibroblast growth factor signaling in skeletal development and disease [PDF]

, 2015
Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
core   +2 more sources

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

New biosensors and transgenic mice for multiplex cGMP imaging

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a versatile second messenger that is important for human (patho‐)physiology and pharmacotherapy. Live‐cell imaging of cGMP with biosensors allows to elucidate its spatiotemporal dynamics in real time under close‐to‐native conditions. However, to monitor two separate cGMP pools or cGMP/cAMP
Markus Wolters, Martin Thunemann, Barbara Birk, Susanne Feil, Viacheslav O. Nikolaev, Moritz Lehners, Robert Feil   +6 more
wiley   +1 more source

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Therapeutic Advances in Musculoskeletal Disease, 2022
Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 ( FGFR3 ) gene, a negative regulator of endochondral bone formation.
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving   +25 more
doaj   +1 more source

An intracellular recombinant single‐chain variable antibody fragment as a new class of phosphodiesterase type 5 inhibitors

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a ubiquitous second messenger involved in human (patho‐)physiology. Phosphodiesterase 5 (PDE5) is a major cGMP hydrolyzing enzyme in many cell types including vascular smooth muscle cells (VSMCs). Several highly selective PDE5 inhibitors are in clinical use. However, there are currently no
Kürsat Kirkgöz, Sophie Sprenger, Olga Schweigert, Sanika Mohagaonkar, Matti Walsdorff, Tanja Zeller, Filip Berisha, Viacheslav O. Nikolaev, Sergei D. Rybalkin   +8 more
wiley   +1 more source