Results 21 to 30 of about 5,366 (132)

Optimising care and follow-up of adults with achondroplasia

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and ...
Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright   +14 more
doaj   +1 more source

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

Oman Journal of Ophthalmology, 2023
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3.
H Kishore
doaj   +1 more source

Achondroplasia: Craniofacial manifestations and considerations in dental management

Saudi Dental Journal, 2010
Achondroplasia is the most common form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of dental interest because of its characteristic craniofacial features which include ...
Afnan Al-Saleem, Asma Al-Jobair
doaj   +1 more source

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

Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide

Genetics in Medicine Open
Purpose: Achondroplasia is the most common form of disproportionate short-stature skeletal dysplasia. Constitutively activated FGFR3 signaling disrupts endochondral ossification, affecting long bone growth, as well as the craniofacial skeleton and skull ...
Hanne Hoskens, J.David Aponte, Cassidy Da Silva, Trevor Coward, Benedikt Hallgrímsson, Melita Irving   +5 more
doaj   +1 more source

Future Challenges and Opportunities for the Viability of Animal Populations in Zoos and Aquariums

Zoo Biology, EarlyView.
ABSTRACT Maintaining sustainable animal populations is fundamental to zoo and aquarium missions in education, visitor engagement, entertainment, scientific advancement, public health and wellbeing, advocacy, and conservation impact. Yet, sustaining viable populations remains a persistent challenge.
Lisa J. Faust, John E. Andrews, Alex Ball, Rebecca Biddle, Rachel A. Bladow, Asako Y. Chaille, Marie Corlay, Veronica Cowl, Caitlin Curry, Candice Dorsey, J. Andrew DeWoody, Adam Eyres, Gina M. Ferrie, Elmar Fienieg, Ashley D. Franklin, Emily K. Latch, Andrea Putnam, Kristine Schad Eebes, Leah J. Williams   +18 more
wiley   +1 more source

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

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

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