Results 31 to 40 of about 7,277 (195)

Cardiovascular risk factors and body composition in adults with achondroplasia [PDF]

, 2021
Purpose An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia.
Ravi Savarirayan, Manum, Grethe,, Serena Tonstad, Lidal, Ingeborg Beate,, Eggesbo, Heidi Beate,, Olof Dahlqvist Leinhard, Harald Weedon-Fekjær, Svein O. Fredwall, Weedon-Fekjaer, Harald,, Dahlqvist Leinhard, Olof,, Lisa Kjønigsen, Grethe Månum, Fredwall, Svein O.,, Ingeborg Beate Lidal, Tonstad, Serena,, Jennifer Linge, Kjonigsen, Lisa,, Linge, Jennifer,, Savarirayan, Ravi,, Heidi Beate Eggesbø   +19 more
core   +2 more sources

Postural control in adults with Achondroplasia

, 2023
Achondroplasia is a genetic rare condition characterized by shorter stature and disproportionate upper and lower limbs length. There is limited evidence on postural control in adults with achondroplasia and on how limb lengthening interacts with body ...
Maria António Castro, Sofia Tavares, Orlando Fernandes, Inês Alves   +3 more
core   +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

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

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

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

Neuroimaging and calvarial findings in achondroplasia

, 2020
Achondroplasia is the most common hereditary form of dwarfism and is characterized by short stature, macrocephaly and various skeletal abnormalities. The phenotypic changes are mainly related to the inhibition of endochondral bone growth.
Sarioglu, FATMA CEREN, Güleryüz Uçar, Handan, Sarioglu, Orkun   +2 more
core   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source